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, confirmed by autopsy, karyotype determination, and fluorescent in situ hybridization examination of intact cells. Multiple other anomalies, including diaphragmatic hernia, a doomed bicuspid aortic valve, and müllerian derivative defects, were present. There was no sexual ambiguity. The age of this patient and the presence of anatomically dispersed congenital anomalies are unique among reported examples of 46,XX gonadal agenesis. Review of the literature reveals that all five previously reported cytogenetically confirmed patients with 46,XX gonadal agenesis were 17 to 25 years of age, none were diagnosed before their teens, all had female phenotype with sexual infantilism, three had müllerian derivative anomalies, and none had nongenitourinary anomalies. The abnormalities in this case may represent a polytopic field defect due to unknown insults occurring at approximately 6 weeks of developmental age.
Oyer
C E
CE
Department of Pathology, Women and Infants Hospital, Providence, RI 02906.
Ramos
D
D
Shoji
T
T
Tantravahi
U
U
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D005260:Female; D006059:Gonadal Dysgenesis / Q000473:pathology*; D006801:Humans; D017403:In Situ Hybridization; D007231:Infant, Newborn; D007621:Karyotyping