Genotype–phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-04

AUTHORS

A. Abacı, G. Çatlı, Ö. Kırbıyık, N. M. Şahin, Z. Y. Abalı, E. Ünal, Z. Şıklar, E. Mengen, S. Özen, T. Güran, C. Kara, M. Yıldız, E. Eren, Ö. Nalbantoğlu, A. Güven, A. Çayır, E. D. Akbaş, Y. Kor, Y. Çürek, Z. Aycan, F. Baş, Ş. Darcan, M. Berberoğlu

ABSTRACT

BACKGROUND: Studies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5α-RD2) are limited and they were conducted on small number of patients. OBJECTIVE: To present genotype-phenotype correlation, gonadal malignancy risk, gender preference, and diagnostic sensitivity of serum testosterone/dihydrotestosterone (T/DHT) ratio in patients with 5α-RD2. MATERIALS AND METHODS: Patients with variations in the SRD5A2 gene were included in the study. Demographic characteristics, phenotype, gender assignment, hormonal tests, molecular genetic data, and presence of gonadal malignancy were evaluated. RESULTS: A total of 85 patients were included in the study. Abnormality of the external genitalia was the most dominant phenotype (92.9%). Gender assignment was male in 58.8% and female in 29.4% of the patients, while it was uncertain for 11.8%. Fourteen patients underwent bilateral gonadectomy, and no gonadal malignancy was detected. The most frequent pathogenic variants were p.Ala65Pro (30.6%), p.Leu55Gln (16.5%), and p.Gly196Ser (15.3%). The p.Ala65Pro and p.Leu55Gln showed more undervirilization than the p.Gly196Ser. The diagnostic sensitivity of stimulated T/DHT ratio was higher than baseline serum T/DHT ratio, even in pubertal patients. The cut-off values yielding the best sensitivity for stimulated T/DHT ratio were ≥ 8.5 for minipuberty, ≥ 10 for prepuberty, and ≥ 17 for puberty. CONCLUSION: There is no significant genotype-phenotype correlation in 5α-RD2. Gonadal malignancy risk seems to be low. If genetic analysis is not available at the time of diagnosis, stimulated T/DHT ratio can be useful, especially if different cut-off values are utilized in accordance with the pubertal status. More... »

PAGES

453-470

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s40618-018-0940-y

DOI

http://dx.doi.org/10.1007/s40618-018-0940-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1106281994

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30132287


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Dokuz Eyl\u00fcl University", 
          "id": "https://www.grid.ac/institutes/grid.21200.31", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eyl\u00fcl University, Balcova, 35340, Izmir, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Abac\u0131", 
        "givenName": "A.", 
        "id": "sg:person.01276312526.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01276312526.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Izmir K\u00e2tip \u00c7elebi University", 
          "id": "https://www.grid.ac/institutes/grid.411795.f", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, \u0130zmir Katip \u00c7elebi University, Izmir, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "\u00c7atl\u0131", 
        "givenName": "G.", 
        "id": "sg:person.01053650170.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053650170.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Izmir Tepecik E\u011fitim ve Ara\u015ft\u0131rma Hastanesi", 
          "id": "https://www.grid.ac/institutes/grid.414882.3", 
          "name": [
            "Division of Genetics, Tepecik Training and Research Hospital, Sa\u011fl\u0131k Bilimleri University, Izmir, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "K\u0131rb\u0131y\u0131k", 
        "givenName": "\u00d6.", 
        "id": "sg:person.01000501220.89", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000501220.89"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University", 
          "id": "https://www.grid.ac/institutes/grid.449874.2", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine and Dr Sami Ulus Woman Health and Children Research Hospital, Y\u0131ld\u0131r\u0131m Beyaz\u0131t University, Ankara, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "\u015eahin", 
        "givenName": "N. M.", 
        "id": "sg:person.01204502732.27", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204502732.27"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istanbul University", 
          "id": "https://www.grid.ac/institutes/grid.9601.e", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, \u0130stanbul University, \u0130stanbul, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Abal\u0131", 
        "givenName": "Z. Y.", 
        "id": "sg:person.01242547625.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01242547625.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Dicle University", 
          "id": "https://www.grid.ac/institutes/grid.411690.b", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, Dicle University, Diyarbak\u0131r, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "\u00dcnal", 
        "givenName": "E.", 
        "id": "sg:person.01026512402.98", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026512402.98"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ankara University", 
          "id": "https://www.grid.ac/institutes/grid.7256.6", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, Ankara University, Ankara, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "\u015e\u0131klar", 
        "givenName": "Z.", 
        "id": "sg:person.01201570102.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01201570102.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cukurova University", 
          "id": "https://www.grid.ac/institutes/grid.98622.37", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, \u00c7ukurova University, Adana, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mengen", 
        "givenName": "E.", 
        "id": "sg:person.01335141425.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01335141425.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ege University", 
          "id": "https://www.grid.ac/institutes/grid.8302.9", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, Ege University, Izmir, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "\u00d6zen", 
        "givenName": "S.", 
        "id": "sg:person.01316361001.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01316361001.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Marmara University", 
          "id": "https://www.grid.ac/institutes/grid.16477.33", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, Marmara University, \u0130stanbul, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "G\u00fcran", 
        "givenName": "T.", 
        "id": "sg:person.01313355465.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313355465.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ondokuz May\u0131s University", 
          "id": "https://www.grid.ac/institutes/grid.411049.9", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, Ondokuz May\u0131s University, Samsun, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kara", 
        "givenName": "C.", 
        "id": "sg:person.0710731540.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0710731540.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "\u0130stanbul E\u011fitim ve Ara\u015ft\u0131rma Hastanesi", 
          "id": "https://www.grid.ac/institutes/grid.414850.c", 
          "name": [
            "Division of Pediatric Endocrinology, Kanuni Sultan S\u00fcleyman Training and Research Hospital, \u0130stanbul, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Y\u0131ld\u0131z", 
        "givenName": "M.", 
        "id": "sg:person.01150317567.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150317567.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Uluda\u011f University", 
          "id": "https://www.grid.ac/institutes/grid.34538.39", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, Uluda\u011f University, Bursa, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Eren", 
        "givenName": "E.", 
        "id": "sg:person.01205015165.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205015165.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Dr. Beh\u00e7et Uz \u00c7ocuk Hastal\u0131klar\u0131 Hastanesi", 
          "id": "https://www.grid.ac/institutes/grid.414112.3", 
          "name": [
            "Division of Pediatric Endocrinology, Dr. Behcet Uz Children\u2019s Hospital, Izmir, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nalbanto\u011flu", 
        "givenName": "\u00d6.", 
        "id": "sg:person.0744576117.95", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0744576117.95"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Amasya University", 
          "id": "https://www.grid.ac/institutes/grid.411355.7", 
          "name": [
            "Department of Pediatric Endocrinology, G\u00f6ztepe Training and Research Hospital, \u0130stanbul, Turkey", 
            "Department of Pediatric Endocrinology, Faculty of Medicine, Amasya University, Amasya, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "G\u00fcven", 
        "givenName": "A.", 
        "id": "sg:person.01127177565.57", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127177565.57"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Division of Pediatric Endocrinology, Erzurum Training and Research Hospital, Erzurum, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "\u00c7ay\u0131r", 
        "givenName": "A.", 
        "id": "sg:person.01262102102.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262102102.23"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Gazi University", 
          "id": "https://www.grid.ac/institutes/grid.25769.3f", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, Gazi University, Ankara, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Akba\u015f", 
        "givenName": "E. D.", 
        "id": "sg:person.015016431073.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015016431073.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatric Endocrinology, Numune Training and Research Hospital, Sa\u011fl\u0131k Bilimleri University, Adana, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kor", 
        "givenName": "Y.", 
        "id": "sg:person.01050074474.70", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050074474.70"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Antalya E\u011fitim ve Ara\u015ft\u0131rma Hastanesi", 
          "id": "https://www.grid.ac/institutes/grid.413819.6", 
          "name": [
            "Department of Pediatric Endocrinology, Sa\u011fl\u0131k Bilimleri University Antalya Training and Research Hospital, Antalya, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "\u00c7\u00fcrek", 
        "givenName": "Y.", 
        "id": "sg:person.012001611405.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012001611405.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University", 
          "id": "https://www.grid.ac/institutes/grid.449874.2", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine and Dr Sami Ulus Woman Health and Children Research Hospital, Y\u0131ld\u0131r\u0131m Beyaz\u0131t University, Ankara, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Aycan", 
        "givenName": "Z.", 
        "id": "sg:person.0721067612.59", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721067612.59"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istanbul University", 
          "id": "https://www.grid.ac/institutes/grid.9601.e", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, \u0130stanbul University, \u0130stanbul, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ba\u015f", 
        "givenName": "F.", 
        "id": "sg:person.01271742576.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271742576.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ege University", 
          "id": "https://www.grid.ac/institutes/grid.8302.9", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, Ege University, Izmir, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Darcan", 
        "givenName": "\u015e.", 
        "id": "sg:person.01202132401.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202132401.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ankara University", 
          "id": "https://www.grid.ac/institutes/grid.7256.6", 
          "name": [
            "Department of Pediatric Endocrinology, Faculty of Medicine, Ankara University, Ankara, Turkey"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Berbero\u011flu", 
        "givenName": "M.", 
        "id": "sg:person.01271220263.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271220263.91"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.2164/jandrol.109.009407", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001530726"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00109-005-0651-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002770855", 
          "https://doi.org/10.1007/s00109-005-0651-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00109-005-0651-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002770855", 
          "https://doi.org/10.1007/s00109-005-0651-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2265.1997.800904.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007008983"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10508-005-4339-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008014148", 
          "https://doi.org/10.1007/s10508-005-4339-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10508-005-4339-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008014148", 
          "https://doi.org/10.1007/s10508-005-4339-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1098/rstb.2009.0124", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009127331"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/andr.12108", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009678910"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1515/cclm-2016-0394", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014825068"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<223::aid-ajmg39>3.0.co;2-o", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014893002"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/cen.12456", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018129705"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000102103", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018141688"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1515/jpem.2002.15.4.411", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018368598"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/cen.12799", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018662346"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jsbmb.2016.05.020", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018822498"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000318004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019209881"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19991126)87:3<221::aid-ajmg5>3.0.co;2-#", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020350813"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2605.2009.01036.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021416694"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2605.2009.01036.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021416694"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2015.30", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022229472", 
          "https://doi.org/10.1038/gim.2015.30"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-010-1163-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022970210", 
          "https://doi.org/10.1007/s00431-010-1163-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-010-1163-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022970210", 
          "https://doi.org/10.1007/s00431-010-1163-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000070626", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026532620"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/01.ju.0000047621.66463.29", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026555535"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/01.ju.0000047621.66463.29", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026555535"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/0471142905.hg0720s76", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029270941"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/molehr/gaq072", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031155546"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/molehr/gaq072", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031155546"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1472-6823-14-43", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031448930", 
          "https://doi.org/10.1186/1472-6823-14-43"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2265.2003.01763.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035686509"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-010-1189-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036318984", 
          "https://doi.org/10.1007/s00431-010-1189-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-010-1189-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036318984", 
          "https://doi.org/10.1007/s00431-010-1189-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jpurol.2006.03.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037901415"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2265.1995.tb01913.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039102871"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.2047-2927.2014.00215.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039844915"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/hbeh.2001.1684", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039960959"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000445090", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041615905"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1515/jpem.2009.22.3.247", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042517325"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.fertnstert.2010.08.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043776066"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1373/clinchem.2012.196501", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045525260"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2265.1991.tb03769.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046429004"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.097857.109", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047484720"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci115954", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047551217"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1515/jpem.2003.16.2.219", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048733032"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-0032-1324727", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1057272642"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.186.4170.1213", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062510899"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/edrv-14-5-577", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064238042"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/er.14.5.577", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064285623"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2002-021415", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064286385"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2010-1024", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064292237"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jcem-48-5-821", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064310547"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jcem.80.7.7608269", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064319616"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jcem.83.2.4535", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064321550"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4274/jcrpe.2495", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1072438685"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077428023", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.5144/0256-4947.2014.254", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1078980185"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-04", 
    "datePublishedReg": "2019-04-01", 
    "description": "BACKGROUND: Studies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5\u03b1-RD2) are limited and they were conducted on small number of patients.\nOBJECTIVE: To present genotype-phenotype correlation, gonadal malignancy risk, gender preference, and diagnostic sensitivity of serum testosterone/dihydrotestosterone (T/DHT) ratio in patients with 5\u03b1-RD2.\nMATERIALS AND METHODS: Patients with variations in the SRD5A2 gene were included in the study. Demographic characteristics, phenotype, gender assignment, hormonal tests, molecular genetic data, and presence of gonadal malignancy were evaluated.\nRESULTS: A total of 85 patients were included in the study. Abnormality of the external genitalia was the most dominant phenotype (92.9%). Gender assignment was male in 58.8% and female in 29.4% of the patients, while it was uncertain for 11.8%. Fourteen patients underwent bilateral gonadectomy, and no gonadal malignancy was detected. The most frequent pathogenic variants were p.Ala65Pro (30.6%), p.Leu55Gln (16.5%), and p.Gly196Ser (15.3%). The p.Ala65Pro and p.Leu55Gln showed more undervirilization than the p.Gly196Ser. The diagnostic sensitivity of stimulated T/DHT ratio was higher than baseline serum T/DHT ratio, even in pubertal patients. The cut-off values yielding the best sensitivity for stimulated T/DHT ratio were\u2009\u2265\u20098.5 for minipuberty,\u2009\u2265\u200910 for prepuberty, and\u2009\u2265\u200917 for puberty.\nCONCLUSION: There is no significant genotype-phenotype correlation in 5\u03b1-RD2. Gonadal malignancy risk seems to be low. If genetic analysis is not available at the time of diagnosis, stimulated T/DHT ratio can be useful, especially if different cut-off values are utilized in accordance with the pubertal status.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s40618-018-0940-y", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1088396", 
        "issn": [
          "0391-4097", 
          "1720-8386"
        ], 
        "name": "Journal of Endocrinological Investigation", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "42"
      }
    ], 
    "name": "Genotype\u2013phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey", 
    "pagination": "453-470", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "ea607fae5f83dff5bc8e4236fe42addf618c6e8a38a1ad85c6b68e042a1c04e8"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30132287"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7806594"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s40618-018-0940-y"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1106281994"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s40618-018-0940-y", 
      "https://app.dimensions.ai/details/publication/pub.1106281994"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T13:21", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000368_0000000368/records_78972_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs40618-018-0940-y"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s40618-018-0940-y'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s40618-018-0940-y'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s40618-018-0940-y'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s40618-018-0940-y'


 

This table displays all metadata directly associated to this object as RDF triples.

428 TRIPLES      21 PREDICATES      78 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s40618-018-0940-y schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author Nca7c6032126a4bdbba53f94b2a95af38
4 schema:citation sg:pub.10.1007/s00109-005-0651-7
5 sg:pub.10.1007/s00431-010-1163-1
6 sg:pub.10.1007/s00431-010-1189-4
7 sg:pub.10.1007/s10508-005-4339-4
8 sg:pub.10.1038/gim.2015.30
9 sg:pub.10.1186/1472-6823-14-43
10 https://app.dimensions.ai/details/publication/pub.1077428023
11 https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<223::aid-ajmg39>3.0.co;2-o
12 https://doi.org/10.1002/(sici)1096-8628(19991126)87:3<221::aid-ajmg5>3.0.co;2-#
13 https://doi.org/10.1002/0471142905.hg0720s76
14 https://doi.org/10.1006/hbeh.2001.1684
15 https://doi.org/10.1016/j.fertnstert.2010.08.007
16 https://doi.org/10.1016/j.jpurol.2006.03.004
17 https://doi.org/10.1016/j.jsbmb.2016.05.020
18 https://doi.org/10.1046/j.1365-2265.1997.800904.x
19 https://doi.org/10.1046/j.1365-2265.2003.01763.x
20 https://doi.org/10.1055/s-0032-1324727
21 https://doi.org/10.1093/molehr/gaq072
22 https://doi.org/10.1097/01.ju.0000047621.66463.29
23 https://doi.org/10.1098/rstb.2009.0124
24 https://doi.org/10.1101/gr.097857.109
25 https://doi.org/10.1111/andr.12108
26 https://doi.org/10.1111/cen.12456
27 https://doi.org/10.1111/cen.12799
28 https://doi.org/10.1111/j.1365-2265.1991.tb03769.x
29 https://doi.org/10.1111/j.1365-2265.1995.tb01913.x
30 https://doi.org/10.1111/j.1365-2605.2009.01036.x
31 https://doi.org/10.1111/j.2047-2927.2014.00215.x
32 https://doi.org/10.1126/science.186.4170.1213
33 https://doi.org/10.1159/000070626
34 https://doi.org/10.1159/000102103
35 https://doi.org/10.1159/000318004
36 https://doi.org/10.1159/000445090
37 https://doi.org/10.1172/jci115954
38 https://doi.org/10.1210/edrv-14-5-577
39 https://doi.org/10.1210/er.14.5.577
40 https://doi.org/10.1210/jc.2002-021415
41 https://doi.org/10.1210/jc.2010-1024
42 https://doi.org/10.1210/jcem-48-5-821
43 https://doi.org/10.1210/jcem.80.7.7608269
44 https://doi.org/10.1210/jcem.83.2.4535
45 https://doi.org/10.1373/clinchem.2012.196501
46 https://doi.org/10.1515/cclm-2016-0394
47 https://doi.org/10.1515/jpem.2002.15.4.411
48 https://doi.org/10.1515/jpem.2003.16.2.219
49 https://doi.org/10.1515/jpem.2009.22.3.247
50 https://doi.org/10.2164/jandrol.109.009407
51 https://doi.org/10.4274/jcrpe.2495
52 https://doi.org/10.5144/0256-4947.2014.254
53 schema:datePublished 2019-04
54 schema:datePublishedReg 2019-04-01
55 schema:description BACKGROUND: Studies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5α-RD2) are limited and they were conducted on small number of patients. OBJECTIVE: To present genotype-phenotype correlation, gonadal malignancy risk, gender preference, and diagnostic sensitivity of serum testosterone/dihydrotestosterone (T/DHT) ratio in patients with 5α-RD2. MATERIALS AND METHODS: Patients with variations in the SRD5A2 gene were included in the study. Demographic characteristics, phenotype, gender assignment, hormonal tests, molecular genetic data, and presence of gonadal malignancy were evaluated. RESULTS: A total of 85 patients were included in the study. Abnormality of the external genitalia was the most dominant phenotype (92.9%). Gender assignment was male in 58.8% and female in 29.4% of the patients, while it was uncertain for 11.8%. Fourteen patients underwent bilateral gonadectomy, and no gonadal malignancy was detected. The most frequent pathogenic variants were p.Ala65Pro (30.6%), p.Leu55Gln (16.5%), and p.Gly196Ser (15.3%). The p.Ala65Pro and p.Leu55Gln showed more undervirilization than the p.Gly196Ser. The diagnostic sensitivity of stimulated T/DHT ratio was higher than baseline serum T/DHT ratio, even in pubertal patients. The cut-off values yielding the best sensitivity for stimulated T/DHT ratio were ≥ 8.5 for minipuberty, ≥ 10 for prepuberty, and ≥ 17 for puberty. CONCLUSION: There is no significant genotype-phenotype correlation in 5α-RD2. Gonadal malignancy risk seems to be low. If genetic analysis is not available at the time of diagnosis, stimulated T/DHT ratio can be useful, especially if different cut-off values are utilized in accordance with the pubertal status.
56 schema:genre research_article
57 schema:inLanguage en
58 schema:isAccessibleForFree false
59 schema:isPartOf N8100c4009c2c4c1b82f5483a0a541ea2
60 Nffe12c6f123841559b224ff07580fc3e
61 sg:journal.1088396
62 schema:name Genotype–phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey
63 schema:pagination 453-470
64 schema:productId N265eb76cc315446fbc978231b9c01557
65 N65663d3886a5431eb977cd209e7c6288
66 N6700fcf496504652a3cfbec823f0823f
67 Na4dcb7f4041d474db3681f22b4ff5050
68 Ne1127fbae614473091dfcb3e0a7d98c3
69 schema:sameAs https://app.dimensions.ai/details/publication/pub.1106281994
70 https://doi.org/10.1007/s40618-018-0940-y
71 schema:sdDatePublished 2019-04-11T13:21
72 schema:sdLicense https://scigraph.springernature.com/explorer/license/
73 schema:sdPublisher N69c087c356f04119a4d1dca9074765cb
74 schema:url https://link.springer.com/10.1007%2Fs40618-018-0940-y
75 sgo:license sg:explorer/license/
76 sgo:sdDataset articles
77 rdf:type schema:ScholarlyArticle
78 N0fffefe7185f4c90ab4eaa9148789221 rdf:first sg:person.01026512402.98
79 rdf:rest Nf20c59c92c4a40ee81d80096a8242aac
80 N142baa1baf3c4207a19ed3ea7c6e90be rdf:first sg:person.0744576117.95
81 rdf:rest N2da5594449af43b283d4f5060edbe549
82 N16e7f7d033ef4d8ca348bd68badcaf9e rdf:first sg:person.01150317567.47
83 rdf:rest N8da6832480e74e24ab0f620bfcc7e7e6
84 N265eb76cc315446fbc978231b9c01557 schema:name pubmed_id
85 schema:value 30132287
86 rdf:type schema:PropertyValue
87 N2b9779b5561d43159209c340bd00928d rdf:first sg:person.015016431073.37
88 rdf:rest N86b402a44c894167b37f13dffc4fe6e2
89 N2da5594449af43b283d4f5060edbe549 rdf:first sg:person.01127177565.57
90 rdf:rest Nd5b1d313f61d49098a0b769f1a1a03f9
91 N31b1172c0859469e8a5f61845036cf8b rdf:first sg:person.01313355465.32
92 rdf:rest Nb7b17aa1d4a94b9c864691cd70788360
93 N3600a439c5c54343ac3786fac98904fb rdf:first sg:person.01204502732.27
94 rdf:rest N8eb43b53d2644a96a711a2b6778f08bc
95 N65663d3886a5431eb977cd209e7c6288 schema:name nlm_unique_id
96 schema:value 7806594
97 rdf:type schema:PropertyValue
98 N6700fcf496504652a3cfbec823f0823f schema:name dimensions_id
99 schema:value pub.1106281994
100 rdf:type schema:PropertyValue
101 N69c087c356f04119a4d1dca9074765cb schema:name Springer Nature - SN SciGraph project
102 rdf:type schema:Organization
103 N6b7c5e022944484695ed7772f3d88857 rdf:first sg:person.01053650170.19
104 rdf:rest N9036111b9527461ea6f3aec9065612ae
105 N8100c4009c2c4c1b82f5483a0a541ea2 schema:volumeNumber 42
106 rdf:type schema:PublicationVolume
107 N82276cc7819441a884ffbbc4a37c6184 schema:name Division of Pediatric Endocrinology, Erzurum Training and Research Hospital, Erzurum, Turkey
108 rdf:type schema:Organization
109 N86b402a44c894167b37f13dffc4fe6e2 rdf:first sg:person.01050074474.70
110 rdf:rest N88c17c3f1a6242abb06f67b5c5526365
111 N88c17c3f1a6242abb06f67b5c5526365 rdf:first sg:person.012001611405.72
112 rdf:rest N9cd2e4b17e89477fab40d1f6a14c734c
113 N8da6832480e74e24ab0f620bfcc7e7e6 rdf:first sg:person.01205015165.15
114 rdf:rest N142baa1baf3c4207a19ed3ea7c6e90be
115 N8eb43b53d2644a96a711a2b6778f08bc rdf:first sg:person.01242547625.44
116 rdf:rest N0fffefe7185f4c90ab4eaa9148789221
117 N9036111b9527461ea6f3aec9065612ae rdf:first sg:person.01000501220.89
118 rdf:rest N3600a439c5c54343ac3786fac98904fb
119 N9cd2e4b17e89477fab40d1f6a14c734c rdf:first sg:person.0721067612.59
120 rdf:rest Nb99d99709ec448a388f256dc725e0450
121 Na4dcb7f4041d474db3681f22b4ff5050 schema:name readcube_id
122 schema:value ea607fae5f83dff5bc8e4236fe42addf618c6e8a38a1ad85c6b68e042a1c04e8
123 rdf:type schema:PropertyValue
124 Nb7b17aa1d4a94b9c864691cd70788360 rdf:first sg:person.0710731540.12
125 rdf:rest N16e7f7d033ef4d8ca348bd68badcaf9e
126 Nb99d99709ec448a388f256dc725e0450 rdf:first sg:person.01271742576.28
127 rdf:rest Nebf483b8d6af4ea18e6a0fb0fadc8241
128 Nc1566407f7f4401fa12d714bc003a57b schema:name Department of Pediatric Endocrinology, Numune Training and Research Hospital, Sağlık Bilimleri University, Adana, Turkey
129 rdf:type schema:Organization
130 Nca7c6032126a4bdbba53f94b2a95af38 rdf:first sg:person.01276312526.52
131 rdf:rest N6b7c5e022944484695ed7772f3d88857
132 Nd34b7f534664439890dc474df69fe823 rdf:first sg:person.01316361001.29
133 rdf:rest N31b1172c0859469e8a5f61845036cf8b
134 Nd5b1d313f61d49098a0b769f1a1a03f9 rdf:first sg:person.01262102102.23
135 rdf:rest N2b9779b5561d43159209c340bd00928d
136 Ne1127fbae614473091dfcb3e0a7d98c3 schema:name doi
137 schema:value 10.1007/s40618-018-0940-y
138 rdf:type schema:PropertyValue
139 Nebf483b8d6af4ea18e6a0fb0fadc8241 rdf:first sg:person.01202132401.91
140 rdf:rest Nfddadd70a5d44e948328423d3f221594
141 Nf20c59c92c4a40ee81d80096a8242aac rdf:first sg:person.01201570102.43
142 rdf:rest Nfec0211cbc86468b8cd692b895f9f5c3
143 Nfddadd70a5d44e948328423d3f221594 rdf:first sg:person.01271220263.91
144 rdf:rest rdf:nil
145 Nfec0211cbc86468b8cd692b895f9f5c3 rdf:first sg:person.01335141425.63
146 rdf:rest Nd34b7f534664439890dc474df69fe823
147 Nffe12c6f123841559b224ff07580fc3e schema:issueNumber 4
148 rdf:type schema:PublicationIssue
149 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
150 schema:name Biological Sciences
151 rdf:type schema:DefinedTerm
152 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
153 schema:name Genetics
154 rdf:type schema:DefinedTerm
155 sg:journal.1088396 schema:issn 0391-4097
156 1720-8386
157 schema:name Journal of Endocrinological Investigation
158 rdf:type schema:Periodical
159 sg:person.01000501220.89 schema:affiliation https://www.grid.ac/institutes/grid.414882.3
160 schema:familyName Kırbıyık
161 schema:givenName Ö.
162 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000501220.89
163 rdf:type schema:Person
164 sg:person.01026512402.98 schema:affiliation https://www.grid.ac/institutes/grid.411690.b
165 schema:familyName Ünal
166 schema:givenName E.
167 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026512402.98
168 rdf:type schema:Person
169 sg:person.01050074474.70 schema:affiliation Nc1566407f7f4401fa12d714bc003a57b
170 schema:familyName Kor
171 schema:givenName Y.
172 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050074474.70
173 rdf:type schema:Person
174 sg:person.01053650170.19 schema:affiliation https://www.grid.ac/institutes/grid.411795.f
175 schema:familyName Çatlı
176 schema:givenName G.
177 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053650170.19
178 rdf:type schema:Person
179 sg:person.01127177565.57 schema:affiliation https://www.grid.ac/institutes/grid.411355.7
180 schema:familyName Güven
181 schema:givenName A.
182 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127177565.57
183 rdf:type schema:Person
184 sg:person.01150317567.47 schema:affiliation https://www.grid.ac/institutes/grid.414850.c
185 schema:familyName Yıldız
186 schema:givenName M.
187 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150317567.47
188 rdf:type schema:Person
189 sg:person.012001611405.72 schema:affiliation https://www.grid.ac/institutes/grid.413819.6
190 schema:familyName Çürek
191 schema:givenName Y.
192 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012001611405.72
193 rdf:type schema:Person
194 sg:person.01201570102.43 schema:affiliation https://www.grid.ac/institutes/grid.7256.6
195 schema:familyName Şıklar
196 schema:givenName Z.
197 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01201570102.43
198 rdf:type schema:Person
199 sg:person.01202132401.91 schema:affiliation https://www.grid.ac/institutes/grid.8302.9
200 schema:familyName Darcan
201 schema:givenName Ş.
202 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202132401.91
203 rdf:type schema:Person
204 sg:person.01204502732.27 schema:affiliation https://www.grid.ac/institutes/grid.449874.2
205 schema:familyName Şahin
206 schema:givenName N. M.
207 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204502732.27
208 rdf:type schema:Person
209 sg:person.01205015165.15 schema:affiliation https://www.grid.ac/institutes/grid.34538.39
210 schema:familyName Eren
211 schema:givenName E.
212 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205015165.15
213 rdf:type schema:Person
214 sg:person.01242547625.44 schema:affiliation https://www.grid.ac/institutes/grid.9601.e
215 schema:familyName Abalı
216 schema:givenName Z. Y.
217 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01242547625.44
218 rdf:type schema:Person
219 sg:person.01262102102.23 schema:affiliation N82276cc7819441a884ffbbc4a37c6184
220 schema:familyName Çayır
221 schema:givenName A.
222 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262102102.23
223 rdf:type schema:Person
224 sg:person.01271220263.91 schema:affiliation https://www.grid.ac/institutes/grid.7256.6
225 schema:familyName Berberoğlu
226 schema:givenName M.
227 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271220263.91
228 rdf:type schema:Person
229 sg:person.01271742576.28 schema:affiliation https://www.grid.ac/institutes/grid.9601.e
230 schema:familyName Baş
231 schema:givenName F.
232 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271742576.28
233 rdf:type schema:Person
234 sg:person.01276312526.52 schema:affiliation https://www.grid.ac/institutes/grid.21200.31
235 schema:familyName Abacı
236 schema:givenName A.
237 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01276312526.52
238 rdf:type schema:Person
239 sg:person.01313355465.32 schema:affiliation https://www.grid.ac/institutes/grid.16477.33
240 schema:familyName Güran
241 schema:givenName T.
242 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313355465.32
243 rdf:type schema:Person
244 sg:person.01316361001.29 schema:affiliation https://www.grid.ac/institutes/grid.8302.9
245 schema:familyName Özen
246 schema:givenName S.
247 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01316361001.29
248 rdf:type schema:Person
249 sg:person.01335141425.63 schema:affiliation https://www.grid.ac/institutes/grid.98622.37
250 schema:familyName Mengen
251 schema:givenName E.
252 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01335141425.63
253 rdf:type schema:Person
254 sg:person.015016431073.37 schema:affiliation https://www.grid.ac/institutes/grid.25769.3f
255 schema:familyName Akbaş
256 schema:givenName E. D.
257 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015016431073.37
258 rdf:type schema:Person
259 sg:person.0710731540.12 schema:affiliation https://www.grid.ac/institutes/grid.411049.9
260 schema:familyName Kara
261 schema:givenName C.
262 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0710731540.12
263 rdf:type schema:Person
264 sg:person.0721067612.59 schema:affiliation https://www.grid.ac/institutes/grid.449874.2
265 schema:familyName Aycan
266 schema:givenName Z.
267 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721067612.59
268 rdf:type schema:Person
269 sg:person.0744576117.95 schema:affiliation https://www.grid.ac/institutes/grid.414112.3
270 schema:familyName Nalbantoğlu
271 schema:givenName Ö.
272 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0744576117.95
273 rdf:type schema:Person
274 sg:pub.10.1007/s00109-005-0651-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002770855
275 https://doi.org/10.1007/s00109-005-0651-7
276 rdf:type schema:CreativeWork
277 sg:pub.10.1007/s00431-010-1163-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022970210
278 https://doi.org/10.1007/s00431-010-1163-1
279 rdf:type schema:CreativeWork
280 sg:pub.10.1007/s00431-010-1189-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036318984
281 https://doi.org/10.1007/s00431-010-1189-4
282 rdf:type schema:CreativeWork
283 sg:pub.10.1007/s10508-005-4339-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008014148
284 https://doi.org/10.1007/s10508-005-4339-4
285 rdf:type schema:CreativeWork
286 sg:pub.10.1038/gim.2015.30 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022229472
287 https://doi.org/10.1038/gim.2015.30
288 rdf:type schema:CreativeWork
289 sg:pub.10.1186/1472-6823-14-43 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031448930
290 https://doi.org/10.1186/1472-6823-14-43
291 rdf:type schema:CreativeWork
292 https://app.dimensions.ai/details/publication/pub.1077428023 schema:CreativeWork
293 https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<223::aid-ajmg39>3.0.co;2-o schema:sameAs https://app.dimensions.ai/details/publication/pub.1014893002
294 rdf:type schema:CreativeWork
295 https://doi.org/10.1002/(sici)1096-8628(19991126)87:3<221::aid-ajmg5>3.0.co;2-# schema:sameAs https://app.dimensions.ai/details/publication/pub.1020350813
296 rdf:type schema:CreativeWork
297 https://doi.org/10.1002/0471142905.hg0720s76 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029270941
298 rdf:type schema:CreativeWork
299 https://doi.org/10.1006/hbeh.2001.1684 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039960959
300 rdf:type schema:CreativeWork
301 https://doi.org/10.1016/j.fertnstert.2010.08.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043776066
302 rdf:type schema:CreativeWork
303 https://doi.org/10.1016/j.jpurol.2006.03.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037901415
304 rdf:type schema:CreativeWork
305 https://doi.org/10.1016/j.jsbmb.2016.05.020 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018822498
306 rdf:type schema:CreativeWork
307 https://doi.org/10.1046/j.1365-2265.1997.800904.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1007008983
308 rdf:type schema:CreativeWork
309 https://doi.org/10.1046/j.1365-2265.2003.01763.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1035686509
310 rdf:type schema:CreativeWork
311 https://doi.org/10.1055/s-0032-1324727 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057272642
312 rdf:type schema:CreativeWork
313 https://doi.org/10.1093/molehr/gaq072 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031155546
314 rdf:type schema:CreativeWork
315 https://doi.org/10.1097/01.ju.0000047621.66463.29 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026555535
316 rdf:type schema:CreativeWork
317 https://doi.org/10.1098/rstb.2009.0124 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009127331
318 rdf:type schema:CreativeWork
319 https://doi.org/10.1101/gr.097857.109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047484720
320 rdf:type schema:CreativeWork
321 https://doi.org/10.1111/andr.12108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009678910
322 rdf:type schema:CreativeWork
323 https://doi.org/10.1111/cen.12456 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018129705
324 rdf:type schema:CreativeWork
325 https://doi.org/10.1111/cen.12799 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018662346
326 rdf:type schema:CreativeWork
327 https://doi.org/10.1111/j.1365-2265.1991.tb03769.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1046429004
328 rdf:type schema:CreativeWork
329 https://doi.org/10.1111/j.1365-2265.1995.tb01913.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1039102871
330 rdf:type schema:CreativeWork
331 https://doi.org/10.1111/j.1365-2605.2009.01036.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1021416694
332 rdf:type schema:CreativeWork
333 https://doi.org/10.1111/j.2047-2927.2014.00215.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1039844915
334 rdf:type schema:CreativeWork
335 https://doi.org/10.1126/science.186.4170.1213 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062510899
336 rdf:type schema:CreativeWork
337 https://doi.org/10.1159/000070626 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026532620
338 rdf:type schema:CreativeWork
339 https://doi.org/10.1159/000102103 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018141688
340 rdf:type schema:CreativeWork
341 https://doi.org/10.1159/000318004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019209881
342 rdf:type schema:CreativeWork
343 https://doi.org/10.1159/000445090 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041615905
344 rdf:type schema:CreativeWork
345 https://doi.org/10.1172/jci115954 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047551217
346 rdf:type schema:CreativeWork
347 https://doi.org/10.1210/edrv-14-5-577 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064238042
348 rdf:type schema:CreativeWork
349 https://doi.org/10.1210/er.14.5.577 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064285623
350 rdf:type schema:CreativeWork
351 https://doi.org/10.1210/jc.2002-021415 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064286385
352 rdf:type schema:CreativeWork
353 https://doi.org/10.1210/jc.2010-1024 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064292237
354 rdf:type schema:CreativeWork
355 https://doi.org/10.1210/jcem-48-5-821 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064310547
356 rdf:type schema:CreativeWork
357 https://doi.org/10.1210/jcem.80.7.7608269 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064319616
358 rdf:type schema:CreativeWork
359 https://doi.org/10.1210/jcem.83.2.4535 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064321550
360 rdf:type schema:CreativeWork
361 https://doi.org/10.1373/clinchem.2012.196501 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045525260
362 rdf:type schema:CreativeWork
363 https://doi.org/10.1515/cclm-2016-0394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014825068
364 rdf:type schema:CreativeWork
365 https://doi.org/10.1515/jpem.2002.15.4.411 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018368598
366 rdf:type schema:CreativeWork
367 https://doi.org/10.1515/jpem.2003.16.2.219 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048733032
368 rdf:type schema:CreativeWork
369 https://doi.org/10.1515/jpem.2009.22.3.247 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042517325
370 rdf:type schema:CreativeWork
371 https://doi.org/10.2164/jandrol.109.009407 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001530726
372 rdf:type schema:CreativeWork
373 https://doi.org/10.4274/jcrpe.2495 schema:sameAs https://app.dimensions.ai/details/publication/pub.1072438685
374 rdf:type schema:CreativeWork
375 https://doi.org/10.5144/0256-4947.2014.254 schema:sameAs https://app.dimensions.ai/details/publication/pub.1078980185
376 rdf:type schema:CreativeWork
377 https://www.grid.ac/institutes/grid.16477.33 schema:alternateName Marmara University
378 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, Marmara University, İstanbul, Turkey
379 rdf:type schema:Organization
380 https://www.grid.ac/institutes/grid.21200.31 schema:alternateName Dokuz Eylül University
381 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylül University, Balcova, 35340, Izmir, Turkey
382 rdf:type schema:Organization
383 https://www.grid.ac/institutes/grid.25769.3f schema:alternateName Gazi University
384 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, Gazi University, Ankara, Turkey
385 rdf:type schema:Organization
386 https://www.grid.ac/institutes/grid.34538.39 schema:alternateName Uludağ University
387 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, Uludağ University, Bursa, Turkey
388 rdf:type schema:Organization
389 https://www.grid.ac/institutes/grid.411049.9 schema:alternateName Ondokuz Mayıs University
390 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey
391 rdf:type schema:Organization
392 https://www.grid.ac/institutes/grid.411355.7 schema:alternateName Amasya University
393 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, Amasya University, Amasya, Turkey
394 Department of Pediatric Endocrinology, Göztepe Training and Research Hospital, İstanbul, Turkey
395 rdf:type schema:Organization
396 https://www.grid.ac/institutes/grid.411690.b schema:alternateName Dicle University
397 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey
398 rdf:type schema:Organization
399 https://www.grid.ac/institutes/grid.411795.f schema:alternateName Izmir Kâtip Çelebi University
400 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, İzmir Katip Çelebi University, Izmir, Turkey
401 rdf:type schema:Organization
402 https://www.grid.ac/institutes/grid.413819.6 schema:alternateName Antalya Eğitim ve Araştırma Hastanesi
403 schema:name Department of Pediatric Endocrinology, Sağlık Bilimleri University Antalya Training and Research Hospital, Antalya, Turkey
404 rdf:type schema:Organization
405 https://www.grid.ac/institutes/grid.414112.3 schema:alternateName Dr. Behçet Uz Çocuk Hastalıkları Hastanesi
406 schema:name Division of Pediatric Endocrinology, Dr. Behcet Uz Children’s Hospital, Izmir, Turkey
407 rdf:type schema:Organization
408 https://www.grid.ac/institutes/grid.414850.c schema:alternateName İstanbul Eğitim ve Araştırma Hastanesi
409 schema:name Division of Pediatric Endocrinology, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey
410 rdf:type schema:Organization
411 https://www.grid.ac/institutes/grid.414882.3 schema:alternateName Izmir Tepecik Eğitim ve Araştırma Hastanesi
412 schema:name Division of Genetics, Tepecik Training and Research Hospital, Sağlık Bilimleri University, Izmir, Turkey
413 rdf:type schema:Organization
414 https://www.grid.ac/institutes/grid.449874.2 schema:alternateName Ankara Yıldırım Beyazıt University
415 schema:name Department of Pediatric Endocrinology, Faculty of Medicine and Dr Sami Ulus Woman Health and Children Research Hospital, Yıldırım Beyazıt University, Ankara, Turkey
416 rdf:type schema:Organization
417 https://www.grid.ac/institutes/grid.7256.6 schema:alternateName Ankara University
418 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, Ankara University, Ankara, Turkey
419 rdf:type schema:Organization
420 https://www.grid.ac/institutes/grid.8302.9 schema:alternateName Ege University
421 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, Ege University, Izmir, Turkey
422 rdf:type schema:Organization
423 https://www.grid.ac/institutes/grid.9601.e schema:alternateName Istanbul University
424 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, İstanbul University, İstanbul, Turkey
425 rdf:type schema:Organization
426 https://www.grid.ac/institutes/grid.98622.37 schema:alternateName Cukurova University
427 schema:name Department of Pediatric Endocrinology, Faculty of Medicine, Çukurova University, Adana, Turkey
428 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...