A clinical and cytogenetic study of fifteen patients with 45,X/46XY gonadal dysgenesis.
The cytogenetic and phenotypic findings in 15 patients with 45,X/46,XY mosaicism are described. Six patients presented with delayed sexual development without masculinization. The remaining nine patients had varying degrees of masculinization, ranging from clitoromegaly to hypospadic male phenotypes. Cardiovascular/renal anomalies were detected in 2 of the 15 patients. Gonadoblastomas were present in two patients and did not appear to correlate with the degree of masculinization or percentage of 46,XY cells present. Structural Y chromosome abnormalities were seen in three of the 45,X/46,XY probands. MZ twinning occurred in one of the 45,X/46,XY sibships.
D000293:Adolescent; D000328:Adult; D002648:Child; D002987:Clitoris / Q000002:abnormalities; D003582:Cytogenetics; D004407:Dysgerminoma / Q000150:complications; D005187:Fallopian Tubes / Q000002:abnormalities; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations; D013736:Testicular Neoplasms / Q000150:complications; D013737:Testis / Q000002:abnormalities; D014649:Vas Deferens / Q000002:abnormalities