Children with Cushing’s syndrome: primary pigmented nodular adrenocortical disease should always be suspected View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2011-03

AUTHORS

Renata Marques Gonçalves da Silva, Emília Pinto, Suzan M. Goldman, Cássio Andreoni, Teresa C. Vieira, Julio Abucham

ABSTRACT

Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare form of bilateral adrenocortical hyperplasia that is inherited in an autosomal dominant manner and leads to ACTH-independent Cushing's syndrome (CS). PPNAD may be isolated or associated with Carney Complex (CNC). For the diagnosis of PPNAD and CNC, in addition to the hormonal and imaging tests, searching for PRKAR1A mutations may be recommended. The aims of the present study are to discuss the clinical and molecular findings of two Brazilian patients with ACTH-independent CS due to PPNAD and to show the diagnostic challenge CS represents in childhood. Description of two patients with CS and the many sequential steps for the diagnosis of PPNAD is provided. Sequencing analysis of all coding exons of PRKAR1A in the blood, frozen adrenal nodules (patients 1 and 2) and testicular tumor (patient 1) is performed. After several clinical and laboratory drawbacks that misled the diagnostic investigation in both patients, the diagnosis of PPNAD was finally established and confirmed through pathology and molecular studies. In patient 1, sequencing of PRKAR1A gene revealed a novel heterozygous 10-bp deletion in exon 3, present in his blood, adrenal gland and testicular tumor. The etiologic diagnosis of endogenous CS in children is a challenge that requires expertise and a multidisciplinary collaboration for its prompt and correct management. Although rare, PPNAD should always be considered among the possible etiologies of CS, due to the high prevalence of this disease in this age group. More... »

PAGES

61-67

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s11102-010-0260-5

DOI

http://dx.doi.org/10.1007/s11102-010-0260-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007066104

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20924687


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/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adrenal Cortex Diseases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Carney Complex", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cushing Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cyclic AMP-Dependent Protein Kinase RIalpha Subunit", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Young Adult", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Federal University of Sao Paulo", 
          "id": "https://www.grid.ac/institutes/grid.411249.b", 
          "name": [
            "Neuroendocrine Unit, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo, 04039-002, Rua Pedro de Toledo 910, SP, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "da Silva", 
        "givenName": "Renata Marques Gon\u00e7alves", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Sao Paulo", 
          "id": "https://www.grid.ac/institutes/grid.11899.38", 
          "name": [
            "Division of Endocrinology and Metabolism, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, SP, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pinto", 
        "givenName": "Em\u00edlia", 
        "id": "sg:person.01234624673.27", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01234624673.27"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Federal University of Sao Paulo", 
          "id": "https://www.grid.ac/institutes/grid.411249.b", 
          "name": [
            "Neuroendocrine Unit, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo, 04039-002, Rua Pedro de Toledo 910, SP, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Goldman", 
        "givenName": "Suzan M.", 
        "id": "sg:person.01225421077.36", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225421077.36"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Federal University of Sao Paulo", 
          "id": "https://www.grid.ac/institutes/grid.411249.b", 
          "name": [
            "Neuroendocrine Unit, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo, 04039-002, Rua Pedro de Toledo 910, SP, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Andreoni", 
        "givenName": "C\u00e1ssio", 
        "id": "sg:person.01077641336.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01077641336.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Federal University of Sao Paulo", 
          "id": "https://www.grid.ac/institutes/grid.411249.b", 
          "name": [
            "Neuroendocrine Unit, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo, 04039-002, Rua Pedro de Toledo 910, SP, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vieira", 
        "givenName": "Teresa C.", 
        "id": "sg:person.014135017422.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014135017422.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Federal University of Sao Paulo", 
          "id": "https://www.grid.ac/institutes/grid.411249.b", 
          "name": [
            "Neuroendocrine Unit, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de S\u00e3o Paulo, 04039-002, Rua Pedro de Toledo 910, SP, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Abucham", 
        "givenName": "Julio", 
        "id": "sg:person.01032205046.61", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01032205046.61"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1006/geno.1998.5720", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002195480"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1440-1754.1997.tb01663.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005124682"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1227/01.neu.0000166580.94215.53", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006078506"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2008.85", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012206085", 
          "https://doi.org/10.1038/ejhg.2008.85"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2265.2004.02124.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014814030"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/9.20.3037", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016118621"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3109/07435809809032698", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018943522"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1677/erc.0.0110265", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030833910"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1677/erc.0.0110265", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030833910"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2004-0963", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031994979"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1590/s0004-27302007000800009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033678576"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/79238", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034260511", 
          "https://doi.org/10.1038/79238"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/79238", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034260511", 
          "https://doi.org/10.1038/79238"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncpendmet0701", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034713070", 
          "https://doi.org/10.1038/ncpendmet0701"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/med.0b013e328305082f", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037221392"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/med.0b013e328305082f", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037221392"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1809", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038199966", 
          "https://doi.org/10.1038/ng1809"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1809", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038199966", 
          "https://doi.org/10.1038/ng1809"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cca.2007.10.036", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039768935"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.41.220.613", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039949521"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1096-7192(03)00006-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040735968"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm199809243391304", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046599993"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0022-3468(71)90313-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050258429"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-2007-981477", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1057510042"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/edrv.19.5.0346", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064238448"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/er.19.5.647", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064285732"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2003-032247", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064287613"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2005-2708", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064288997"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2008-0125", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064290526"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.81.10.3607", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064298540"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jcem.81.10.8855810", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064319836"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jcem.86.9.7903", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064324785"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1080762654", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2011-03", 
    "datePublishedReg": "2011-03-01", 
    "description": "Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare form of bilateral adrenocortical hyperplasia that is inherited in an autosomal dominant manner and leads to ACTH-independent Cushing's syndrome (CS). PPNAD may be isolated or associated with Carney Complex (CNC). For the diagnosis of PPNAD and CNC, in addition to the hormonal and imaging tests, searching for PRKAR1A mutations may be recommended. The aims of the present study are to discuss the clinical and molecular findings of two Brazilian patients with ACTH-independent CS due to PPNAD and to show the diagnostic challenge CS represents in childhood. Description of two patients with CS and the many sequential steps for the diagnosis of PPNAD is provided. Sequencing analysis of all coding exons of PRKAR1A in the blood, frozen adrenal nodules (patients 1 and 2) and testicular tumor (patient 1) is performed. After several clinical and laboratory drawbacks that misled the diagnostic investigation in both patients, the diagnosis of PPNAD was finally established and confirmed through pathology and molecular studies. In patient 1, sequencing of PRKAR1A gene revealed a novel heterozygous 10-bp deletion in exon 3, present in his blood, adrenal gland and testicular tumor. The etiologic diagnosis of endogenous CS in children is a challenge that requires expertise and a multidisciplinary collaboration for its prompt and correct management. Although rare, PPNAD should always be considered among the possible etiologies of CS, due to the high prevalence of this disease in this age group.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s11102-010-0260-5", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1119029", 
        "issn": [
          "1386-341X", 
          "1573-7403"
        ], 
        "name": "Pituitary", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "14"
      }
    ], 
    "name": "Children with Cushing\u2019s syndrome: primary pigmented nodular adrenocortical disease should always be suspected", 
    "pagination": "61-67", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "21a8cc729942f5b6050bb61ed4af2369076d86d4097b02a67da33ebe0adfd171"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "20924687"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9814578"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s11102-010-0260-5"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1007066104"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s11102-010-0260-5", 
      "https://app.dimensions.ai/details/publication/pub.1007066104"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T15:53", 
    "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/v90/0000000001_0000000264/records_8664_00000520.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007%2Fs11102-010-0260-5"
  }
]
 

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/s11102-010-0260-5'

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/s11102-010-0260-5'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s11102-010-0260-5'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s11102-010-0260-5'


 

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

236 TRIPLES      21 PREDICATES      68 URIs      31 LITERALS      19 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s11102-010-0260-5 schema:about N12039a96fb014851945a492d794e994c
2 N2851c79295754549898f8172c4a54620
3 N28660b669c364dc5a1bc107cbcebe284
4 N64deb763467c490b880ed98e9a7bc39b
5 N79ce96c33d804d2db9e256ecd4c26018
6 N7f7a778cb268448b8b3ec5d92ced32e4
7 N8d848e61761a49329aa757211e330bc1
8 Na9aa38cf2e1c44d98f1ddadf46c89d0f
9 Nae1698fef92a4512a11068bcfff25788
10 Neb4315896a3541c3bfd35716c94c068d
11 anzsrc-for:11
12 anzsrc-for:1103
13 schema:author Ndbda0e2f1023402d8e2cb854b146e26b
14 schema:citation sg:pub.10.1038/79238
15 sg:pub.10.1038/ejhg.2008.85
16 sg:pub.10.1038/ncpendmet0701
17 sg:pub.10.1038/ng1809
18 https://app.dimensions.ai/details/publication/pub.1080762654
19 https://doi.org/10.1006/geno.1998.5720
20 https://doi.org/10.1016/0022-3468(71)90313-7
21 https://doi.org/10.1016/j.cca.2007.10.036
22 https://doi.org/10.1016/s1096-7192(03)00006-4
23 https://doi.org/10.1055/s-2007-981477
24 https://doi.org/10.1056/nejm199809243391304
25 https://doi.org/10.1093/hmg/9.20.3037
26 https://doi.org/10.1097/med.0b013e328305082f
27 https://doi.org/10.1111/j.1365-2265.2004.02124.x
28 https://doi.org/10.1111/j.1440-1754.1997.tb01663.x
29 https://doi.org/10.1136/adc.41.220.613
30 https://doi.org/10.1210/edrv.19.5.0346
31 https://doi.org/10.1210/er.19.5.647
32 https://doi.org/10.1210/jc.2003-032247
33 https://doi.org/10.1210/jc.2004-0963
34 https://doi.org/10.1210/jc.2005-2708
35 https://doi.org/10.1210/jc.2008-0125
36 https://doi.org/10.1210/jc.81.10.3607
37 https://doi.org/10.1210/jcem.81.10.8855810
38 https://doi.org/10.1210/jcem.86.9.7903
39 https://doi.org/10.1227/01.neu.0000166580.94215.53
40 https://doi.org/10.1590/s0004-27302007000800009
41 https://doi.org/10.1677/erc.0.0110265
42 https://doi.org/10.3109/07435809809032698
43 schema:datePublished 2011-03
44 schema:datePublishedReg 2011-03-01
45 schema:description Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare form of bilateral adrenocortical hyperplasia that is inherited in an autosomal dominant manner and leads to ACTH-independent Cushing's syndrome (CS). PPNAD may be isolated or associated with Carney Complex (CNC). For the diagnosis of PPNAD and CNC, in addition to the hormonal and imaging tests, searching for PRKAR1A mutations may be recommended. The aims of the present study are to discuss the clinical and molecular findings of two Brazilian patients with ACTH-independent CS due to PPNAD and to show the diagnostic challenge CS represents in childhood. Description of two patients with CS and the many sequential steps for the diagnosis of PPNAD is provided. Sequencing analysis of all coding exons of PRKAR1A in the blood, frozen adrenal nodules (patients 1 and 2) and testicular tumor (patient 1) is performed. After several clinical and laboratory drawbacks that misled the diagnostic investigation in both patients, the diagnosis of PPNAD was finally established and confirmed through pathology and molecular studies. In patient 1, sequencing of PRKAR1A gene revealed a novel heterozygous 10-bp deletion in exon 3, present in his blood, adrenal gland and testicular tumor. The etiologic diagnosis of endogenous CS in children is a challenge that requires expertise and a multidisciplinary collaboration for its prompt and correct management. Although rare, PPNAD should always be considered among the possible etiologies of CS, due to the high prevalence of this disease in this age group.
46 schema:genre research_article
47 schema:inLanguage en
48 schema:isAccessibleForFree false
49 schema:isPartOf Na39486f521a34df1903b7453f680bf82
50 Ne5c315e48dfc4056b719face2d6e902c
51 sg:journal.1119029
52 schema:name Children with Cushing’s syndrome: primary pigmented nodular adrenocortical disease should always be suspected
53 schema:pagination 61-67
54 schema:productId N3f39d9bc5cd648df90d137d0e7ce17a4
55 N8114850df1ae458a93df05a81834caa7
56 Nd90be089078f4c9588edf8e74db28a5d
57 Ne0f5b2e604a74c61bbc9254c06559ffb
58 Ne10acf2a223947d4ab02b7ed98a5845b
59 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007066104
60 https://doi.org/10.1007/s11102-010-0260-5
61 schema:sdDatePublished 2019-04-10T15:53
62 schema:sdLicense https://scigraph.springernature.com/explorer/license/
63 schema:sdPublisher Ndb90fc3cf5ff468a84339999b061c06d
64 schema:url http://link.springer.com/10.1007%2Fs11102-010-0260-5
65 sgo:license sg:explorer/license/
66 sgo:sdDataset articles
67 rdf:type schema:ScholarlyArticle
68 N12039a96fb014851945a492d794e994c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
69 schema:name Humans
70 rdf:type schema:DefinedTerm
71 N1afd967c266f4a5fad9937f6e8f41803 schema:affiliation https://www.grid.ac/institutes/grid.411249.b
72 schema:familyName da Silva
73 schema:givenName Renata Marques Gonçalves
74 rdf:type schema:Person
75 N2851c79295754549898f8172c4a54620 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
76 schema:name Young Adult
77 rdf:type schema:DefinedTerm
78 N28660b669c364dc5a1bc107cbcebe284 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
79 schema:name Adult
80 rdf:type schema:DefinedTerm
81 N32d89268e3f34fa599785167a15692f9 rdf:first sg:person.01077641336.45
82 rdf:rest Nf4c0ba6d7f594c27b002e48ea5893585
83 N3f39d9bc5cd648df90d137d0e7ce17a4 schema:name dimensions_id
84 schema:value pub.1007066104
85 rdf:type schema:PropertyValue
86 N64deb763467c490b880ed98e9a7bc39b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
87 schema:name Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
88 rdf:type schema:DefinedTerm
89 N79ce96c33d804d2db9e256ecd4c26018 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Carney Complex
91 rdf:type schema:DefinedTerm
92 N7f7a778cb268448b8b3ec5d92ced32e4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
93 schema:name Female
94 rdf:type schema:DefinedTerm
95 N8114850df1ae458a93df05a81834caa7 schema:name nlm_unique_id
96 schema:value 9814578
97 rdf:type schema:PropertyValue
98 N8d848e61761a49329aa757211e330bc1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Cushing Syndrome
100 rdf:type schema:DefinedTerm
101 N9bd24f676bc84cc6983c92fb1bdaca97 rdf:first sg:person.01032205046.61
102 rdf:rest rdf:nil
103 Na39486f521a34df1903b7453f680bf82 schema:issueNumber 1
104 rdf:type schema:PublicationIssue
105 Na9aa38cf2e1c44d98f1ddadf46c89d0f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Mutation
107 rdf:type schema:DefinedTerm
108 Nae1698fef92a4512a11068bcfff25788 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Male
110 rdf:type schema:DefinedTerm
111 Nb997a4507ac34d7596e2afe2087d1917 rdf:first sg:person.01234624673.27
112 rdf:rest Ncadd7666ba5445d9bf0e72fb550717fb
113 Ncadd7666ba5445d9bf0e72fb550717fb rdf:first sg:person.01225421077.36
114 rdf:rest N32d89268e3f34fa599785167a15692f9
115 Nd90be089078f4c9588edf8e74db28a5d schema:name doi
116 schema:value 10.1007/s11102-010-0260-5
117 rdf:type schema:PropertyValue
118 Ndb90fc3cf5ff468a84339999b061c06d schema:name Springer Nature - SN SciGraph project
119 rdf:type schema:Organization
120 Ndbda0e2f1023402d8e2cb854b146e26b rdf:first N1afd967c266f4a5fad9937f6e8f41803
121 rdf:rest Nb997a4507ac34d7596e2afe2087d1917
122 Ne0f5b2e604a74c61bbc9254c06559ffb schema:name readcube_id
123 schema:value 21a8cc729942f5b6050bb61ed4af2369076d86d4097b02a67da33ebe0adfd171
124 rdf:type schema:PropertyValue
125 Ne10acf2a223947d4ab02b7ed98a5845b schema:name pubmed_id
126 schema:value 20924687
127 rdf:type schema:PropertyValue
128 Ne5c315e48dfc4056b719face2d6e902c schema:volumeNumber 14
129 rdf:type schema:PublicationVolume
130 Neb4315896a3541c3bfd35716c94c068d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
131 schema:name Adrenal Cortex Diseases
132 rdf:type schema:DefinedTerm
133 Nf4c0ba6d7f594c27b002e48ea5893585 rdf:first sg:person.014135017422.04
134 rdf:rest N9bd24f676bc84cc6983c92fb1bdaca97
135 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
136 schema:name Medical and Health Sciences
137 rdf:type schema:DefinedTerm
138 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
139 schema:name Clinical Sciences
140 rdf:type schema:DefinedTerm
141 sg:journal.1119029 schema:issn 1386-341X
142 1573-7403
143 schema:name Pituitary
144 rdf:type schema:Periodical
145 sg:person.01032205046.61 schema:affiliation https://www.grid.ac/institutes/grid.411249.b
146 schema:familyName Abucham
147 schema:givenName Julio
148 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01032205046.61
149 rdf:type schema:Person
150 sg:person.01077641336.45 schema:affiliation https://www.grid.ac/institutes/grid.411249.b
151 schema:familyName Andreoni
152 schema:givenName Cássio
153 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01077641336.45
154 rdf:type schema:Person
155 sg:person.01225421077.36 schema:affiliation https://www.grid.ac/institutes/grid.411249.b
156 schema:familyName Goldman
157 schema:givenName Suzan M.
158 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225421077.36
159 rdf:type schema:Person
160 sg:person.01234624673.27 schema:affiliation https://www.grid.ac/institutes/grid.11899.38
161 schema:familyName Pinto
162 schema:givenName Emília
163 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01234624673.27
164 rdf:type schema:Person
165 sg:person.014135017422.04 schema:affiliation https://www.grid.ac/institutes/grid.411249.b
166 schema:familyName Vieira
167 schema:givenName Teresa C.
168 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014135017422.04
169 rdf:type schema:Person
170 sg:pub.10.1038/79238 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034260511
171 https://doi.org/10.1038/79238
172 rdf:type schema:CreativeWork
173 sg:pub.10.1038/ejhg.2008.85 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012206085
174 https://doi.org/10.1038/ejhg.2008.85
175 rdf:type schema:CreativeWork
176 sg:pub.10.1038/ncpendmet0701 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034713070
177 https://doi.org/10.1038/ncpendmet0701
178 rdf:type schema:CreativeWork
179 sg:pub.10.1038/ng1809 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038199966
180 https://doi.org/10.1038/ng1809
181 rdf:type schema:CreativeWork
182 https://app.dimensions.ai/details/publication/pub.1080762654 schema:CreativeWork
183 https://doi.org/10.1006/geno.1998.5720 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002195480
184 rdf:type schema:CreativeWork
185 https://doi.org/10.1016/0022-3468(71)90313-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050258429
186 rdf:type schema:CreativeWork
187 https://doi.org/10.1016/j.cca.2007.10.036 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039768935
188 rdf:type schema:CreativeWork
189 https://doi.org/10.1016/s1096-7192(03)00006-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040735968
190 rdf:type schema:CreativeWork
191 https://doi.org/10.1055/s-2007-981477 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057510042
192 rdf:type schema:CreativeWork
193 https://doi.org/10.1056/nejm199809243391304 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046599993
194 rdf:type schema:CreativeWork
195 https://doi.org/10.1093/hmg/9.20.3037 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016118621
196 rdf:type schema:CreativeWork
197 https://doi.org/10.1097/med.0b013e328305082f schema:sameAs https://app.dimensions.ai/details/publication/pub.1037221392
198 rdf:type schema:CreativeWork
199 https://doi.org/10.1111/j.1365-2265.2004.02124.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1014814030
200 rdf:type schema:CreativeWork
201 https://doi.org/10.1111/j.1440-1754.1997.tb01663.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1005124682
202 rdf:type schema:CreativeWork
203 https://doi.org/10.1136/adc.41.220.613 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039949521
204 rdf:type schema:CreativeWork
205 https://doi.org/10.1210/edrv.19.5.0346 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064238448
206 rdf:type schema:CreativeWork
207 https://doi.org/10.1210/er.19.5.647 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064285732
208 rdf:type schema:CreativeWork
209 https://doi.org/10.1210/jc.2003-032247 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064287613
210 rdf:type schema:CreativeWork
211 https://doi.org/10.1210/jc.2004-0963 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031994979
212 rdf:type schema:CreativeWork
213 https://doi.org/10.1210/jc.2005-2708 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064288997
214 rdf:type schema:CreativeWork
215 https://doi.org/10.1210/jc.2008-0125 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064290526
216 rdf:type schema:CreativeWork
217 https://doi.org/10.1210/jc.81.10.3607 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064298540
218 rdf:type schema:CreativeWork
219 https://doi.org/10.1210/jcem.81.10.8855810 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064319836
220 rdf:type schema:CreativeWork
221 https://doi.org/10.1210/jcem.86.9.7903 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064324785
222 rdf:type schema:CreativeWork
223 https://doi.org/10.1227/01.neu.0000166580.94215.53 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006078506
224 rdf:type schema:CreativeWork
225 https://doi.org/10.1590/s0004-27302007000800009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033678576
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1677/erc.0.0110265 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030833910
228 rdf:type schema:CreativeWork
229 https://doi.org/10.3109/07435809809032698 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018943522
230 rdf:type schema:CreativeWork
231 https://www.grid.ac/institutes/grid.11899.38 schema:alternateName University of Sao Paulo
232 schema:name Division of Endocrinology and Metabolism, Universidade de São Paulo, São Paulo, SP, Brazil
233 rdf:type schema:Organization
234 https://www.grid.ac/institutes/grid.411249.b schema:alternateName Federal University of Sao Paulo
235 schema:name Neuroendocrine Unit, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, 04039-002, Rua Pedro de Toledo 910, SP, Brazil
236 rdf:type schema:Organization
 




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


...