A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity

Congenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3β-HSD) enzyme deficiency is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy presenting with hype...

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Detalles Bibliográficos
Autores principales: Shehab, M A, Mahmood, Tahseen, Hasanat, M A, Fariduddin, Md, Ahsan, Nazmul, Hossain, Mohammad Shahnoor, Hossain, Md Shahdat, Jahan, Sharmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198180/
https://www.ncbi.nlm.nih.gov/pubmed/30328339
http://dx.doi.org/10.1530/EDM-18-0108

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