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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Umino, Satoko, Kitamura, Miyuki, Katoh‐Fukui, Yuko, Fukami, Maki, Usui, Takeshi, Yatsuga, Shuichi, Koga, Yasutoshi
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
Témata:
Clinical Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565577/
https://ncbi.nlm.nih.gov/pubmed/31060112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.730
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky