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We describe our experience with prenatal diagnosis of sex differentiation disorders, with focus on the role of ultrasound scans for coherent assessment of prenatal diagnosis.
Over a 5-yr period all cases suspected of sexual ambiguity based on abnormal ultrasonographic scans (US) or US/genotype US discrepancy were evaluated prenatally by three modalities: 1) repeated fetal US; 2) genetic studies, primarily karyotype and fluorescence hybridization analysis of sex-determining region on the Y gene (SRY); and 3) hormonal assays of amniotic fluid.
Gonads were palpable in the right inguinal region and in the left labioscrotal fold. Vaginoscopy revealed a rudimentary vagina and uterine cervix.
Gonadal histology showed a left dysgenetic testis and a right ovotestis.
Repeated US scans performed at 13–15 and 22–24 wk gestation are a helpful tool in prenatal diagnosis of sex differentiation disorders.They defined the cardinal features of the syndrome as a characteristic facial appearance with apparent telecanthus and broad tripartite nasal tip, variable syndactyly of toes 2-5, hypoplastic labia, anal atresia, and urogenital malformations.They proposed the name STAR syndrome for toe syndactyly, telecanthus, and anogenital and renal malformations. (2008) analyzed the genes that are mutant in those disorders, respectively, SALL1 (602218), SALL4 (607343), and MYCN (164840), but found no mutations in any of these genes.The first family, of European-American ancestry, had two 46, XX children with ovotestes.The first child presented with ambiguous genitalia at birth.