46,XX gonadal dysgenesis associated with congenital nerve deafness.
A sporadic case of a woman presenting with the combination of pure 46,XX gonadal dysgenesis and congenital nerve deafness is reported. A similar association had been reported as a rare familial occurrence. The apparent heterogeneity of phenotypic characteristics among the previously reported individuals and the possible genetic implications are discussed.
D000293:Adolescent; D003638:Deafness / Q000150:complications / Q000151:congenital* / Q000235:genetics; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications* / Q000235:genetics; D006801:Humans; D010375:Pedigree; D010641:Phenotype