Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype

Heterogeneity was noted in the clinical, phenotypic and gonadal features among pediatric patients with 46,XY gonadal dysgenesis.Table. Patients' characteristics.Clinical presentationsGonadal germ cell neoplasmsOther somatic anomaliesCase 1Ambiguous genitalia at birthNoYesCase 2Frasier syndromeIsolated hypospadiasYesNoCase 3Ambiguous genitalia at birthNoYesCase 4Swyer syndromeFemale phenotypeNoNoCase 5Swyer syndromeFemale phenotypeYesNoCase 6Multiple congenital anomaliesFemale phenotypeYesYes