Article
Characteristic external genitalia in male neonates with 5α-reductase deficiency.
Endocrine journal - 1 Oct 2024
Munenaga Takeshi, Ichihashi Yosuke, Nakano Satsuki, Shibata Hironori, Sato Takeshi, Asanuma Hiroshi, Homma Keiko, Hasegawa Tomonobu, Ishii Tomohiro
Abstract excerpt
There have been no reports comparing neonatal external genitalia of 5α-reductase deficiency (5αRD) with those of other 46,XY differences of sex differentiation (DSD). This study enrolled 31 Japanese cases of 46,XY DSD whose external genitalia was examined during the neonatal period; four were diagnosed as 5αRD and 15 were defined as non-5αRD by genetic analysis of SRD5A2 or urinary steroid metabolites. We...
Topics
- Humans
- Male
- Infant, Newborn
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
- Genitalia, Male
- Disorder of Sex Development, 46,XY
- Penis
- Phenotype
- Japan
- Membrane Proteins