Article
Abnormal gonadal differentiation in two subjects with ambiguous genitalia, Mullerian structures, and normally developed testes: evidence for a defect in gonadal ridge development.
Human genetics - 1 Apr 1996
Fuqua J S, Sher E S, Perlman E J, Urban M D, Ghahremani M, Pelletier J, Migeon C J, Brown T R, Berkovitz G D
Abstract excerpt
Among a group of patients with abnormal sexual differentiation, we have identified two subjects who had a 46,XY karyotype, ambiguous genitalia, and well-developed Müllerian structures, but normal appearing testes. The presence of ambiguous genitalia and persistent Müllerian structures implied both Leydig cell and Sertoli cell dysfunction, hence, gonadal dysgenesis. However, the normal testicular histology...
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