Hormone research in paediatrics · 2026
A Hemizygous <italic>MED12</italic> Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case Report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Koga Nobuhiko, Katoh-Fukui Yuko, Aramaki Michihiko, Horikawa Reiko, Kashimada Kenichi, Fukami Maki
Аннотация
INTRODUCTION: MED12 is a causative gene for congenital malformation syndromes. The association between MED12 variants and 46,XY disorders/differences of sex development (DSD) remains unclear, although several variant-positive patients exhibited genital abnormalities.
CASE PRESENTATION: Three siblings manifested hypomasculinized genitalia, including hypospadias and cryptorchidism, with normal or mildly increased gonadotropin levels. Two patients showed normal spontaneous puberty. Whole exome sequencing identified a maternally derived hemizygous MED12 variant (c.3064A>G, p.Met1022Val). One patient lacked typical clinical features of MED12-associated malformation syndromes.
CONCLUSION: MED12 variants may cause 46,XY DSD with or without congenital malformation syndromes through testicular dysfunction and defective genital formation during fetal development.
CASE PRESENTATION: Three siblings manifested hypomasculinized genitalia, including hypospadias and cryptorchidism, with normal or mildly increased gonadotropin levels. Two patients showed normal spontaneous puberty. Whole exome sequencing identified a maternally derived hemizygous MED12 variant (c.3064A>G, p.Met1022Val). One patient lacked typical clinical features of MED12-associated malformation syndromes.
CONCLUSION: MED12 variants may cause 46,XY DSD with or without congenital malformation syndromes through testicular dysfunction and defective genital formation during fetal development.