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

ConclusionAlthough 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.

Source: Molecular Genetics & Genomic Medicine - May 5, 2019 Category: Genetics & Stem Cells Authors: Satoko Umino, Miyuki Kitamura, Yuko Katoh ‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga Tags: CLINICAL REPORT Source Type: research