Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center View Full Text


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Article Info

DATE

2014-11-27

AUTHORS

Raja Brauner, Sophie Pierrepont, Joelle Bignon-Topalovic, Ken McElreavey, Anu Bashamboo

ABSTRACT

The cause of the primary ovarian insufficiency (POI) remains unknown in the majority of cases. A retrospective study was carried out in 17 girls with POI and normal 46,XX karyotype evaluated before 20 years of age. The etiology of POI was determined in eight girls (group 1) and remained idiopathic in nine girls (group 2). In group 1, five patients had a medical history: cerebellar ataxia due to congenital disorder of glycosylation (CDG) 1 in three cases, mitochondrial disease in one case, and autoimmune deficiencies in one case. The diagnosis of POI was made on pubertal delay or primary amenorrhea in these five patients, whilst the others presented with clitoral hypertrophy at birth or short stature and pubertal delay in two cases with NR5A1 mutation or with short stature and learning difficulties in one case with mitochondrial disease. In group 2, associated diseases were arthrogryposis malformative, gut, and bladder malformations and kidney failure or parieto-occipital tumor. The genes tested (NR5A1, BMP15, GDF9, and NOBOX) showed no mutation.Conclusions: The frequency of defined etiologies (47 %) is high. This is probably because of the recruitment of the cases at the pediatric center, where other somatic anomalies can lead to the accurate determination of the etiology. More... »

PAGES

767-773

References to SciGraph publications

  • 2011-12-25. Expanding the Spectrum of PMM2-CDG Phenotype in JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/2
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    http://scigraph.springernature.com/pub.10.1007/s00431-014-2457-5

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    http://dx.doi.org/10.1007/s00431-014-2457-5

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1020186536

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25425520


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