Article
46,XX gonadal dysgenesis associated with congenital nerve deafness.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics - 1 Jan 2000
Granat M, Reiter A, Dar H, Sharf M
Abstract excerpt
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.
Topics
- Adolescent
- Deafness
- Female
- Gonadal Dysgenesis
- Humans
- Pedigree
- Phenotype