A Hemizygous MED12 Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case Report
MED12 variants may cause 46,XY DSD with or without congenital malformation syndromes through testicular dysfunction and defective genital formation during fetal development.
Authors
- Yûkô Fukui (ORCID: https://orcid.org/0000-0001-6858-3693)
- Michihiko Aramaki (ORCID: https://orcid.org/0000-0001-7032-974X)
- Reiko Horikawa
- Nobuhiko Koga
- Kenichi Kashimada
Institutions
- National Center For Child Health and Development (JP)
Publication Details
- Journal
- Hormone Research in Paediatrics
- Published
- 2026-01-22
- DOI
- https://doi.org/10.1159/000550257
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00