Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia

Steroid 3-beta hydroxysteroid dehydrogenase type II (3β-HSD2) deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). We report the genetic basis of 3β-HSD2 deficiency arising from uniparental isodisomy (UPD) of chromosome 1. We describe a term undervirilized male whos...

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Detalles Bibliográficos
Autores principales: Panzer, Karin, Ekhaguere, Osayame A., Darbro, Benjamin, Cook, Jennifer, Shchelochkov, Oleg A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363168/
https://www.ncbi.nlm.nih.gov/pubmed/27796263
http://dx.doi.org/10.4274/jcrpe.3680

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363168/
https://www.ncbi.nlm.nih.gov/pubmed/27796263
http://dx.doi.org/10.4274/jcrpe.3680

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