46,XX-GONADAL AGENESIS IN A NEONATE WITH MULTIPLE CONGENITAL-ANOMALIES - CASE-REPORT AND REVIEW OF THE LITERATURE

We report a neonate with 46, XX gonadal agenesis, a rare disorder, con firmed by autopsy, karyotype determination, and fluorescent in situ hy bridization examination of intact cells. Multiple other anomalies, inc luding diaphragmatic hernia, a domed bicuspid aortic valve, and muller ian derivative defects, were present. There was no sexual ambiguity. T he age of this patient and the presence of anatomically dispersed cong enital anomalies are unique among reported examples of 46, XX gonadal agenesis. Review of the literature reveals that all five previously re ported cytogenetically confirmed patients with 46,XX gonadal agenesis were 17 to 25 years of age, none were diagnosed before their teens, al l had female phenotype with sexual infantilism, three had mullerian de rivative anomalies, and none had nongenitourinary anomalies. The abnor malities in this case may represent a polytopic field defect due to un known insults occurring at approximately 6 weeks of developmental age.