A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

Abstract Background 21‐hydroxylase deficiency (21‐OHD) is caused due to CYP21A2 gene variant. In males, the excess androgens produce varying degrees of penile enlargement and small testes. CHARGE syndrome (CS) has a broad spectrum of symptoms. In males, genital features such as micropenis and crypto...

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Bibliographic Details
Main Authors: Satoko Umino, Miyuki Kitamura, Yuko Katoh‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga
Format: Article
Language:English
Published: Wiley 2019-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
21‐hydroxylase deficiency
CHARGE syndrome
cryptorchidism
micropenis
Online Access:https://doi.org/10.1002/mgg3.730

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