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

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 cryptorchidism...

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Autores principales: Umino, Satoko, Kitamura, Miyuki, Katoh‐Fukui, Yuko, Fukami, Maki, Usui, Takeshi, Yatsuga, Shuichi, Koga, Yasutoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565577/
https://www.ncbi.nlm.nih.gov/pubmed/31060112
http://dx.doi.org/10.1002/mgg3.730

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