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

Satoko UminoMiyuki KitamuraYuko Katoh-FukuiMaki FukamiTakeshi UsuiShuichi YatsugaYasutoshi Koga

Published in: Molecular genetics & genomic medicine (2019)

Although these two disorders exhibit different modes of inheritance and their co-morbidity is extremely rare, we encountered one male patient who suffered from both 21-OHD and CS.

Keyphrases

case report
mitochondrial dna
replacement therapy
solar cells
gene expression
dna methylation
smoking cessation