Familial occurrence of persistent Mullerian structures in otherwise normal males.
Eight cases of males with persistent Müllerian structures are reported in four pairs of unrelated siblings. A genetically inherited failure to produce or to respond to the Müllerian-inhibiting substance elaborated by the fetal testis is postulated.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000473:pathology; D012734:Disorders of Sex Development / Q000150:complications / Q000235:genetics*; D005187:Fallopian Tubes / Q000002:abnormalities; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities / Q000196:embryology / Q000254:growth & development; D006801:Humans; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities*; D013736:Testicular Neoplasms / Q000209:etiology; D013737:Testis / Q000473:pathology; D014599:Uterus / Q000002:abnormalities