Abstract
Disorders of sexual differentiation may be classified into two categories; 1-disorders of gonadal differentiation; and 2-disorders of genital development. Here we present a case with complete 46, XY gonadal dysgenesis (Swyer’s syndrome) which is one of the female phenotype sexual differentiation disorders resulting from abnormal gonadal differentiation. It is well known that the risk of gonadal neoplasia is increased in gonadal dysgenesis. Swyer’s syndrome should be differentiated from syndrome of complete androgen insensitivity (Testicular feminization) and from Leydig cell agenesis. In the latter two disorders phenotype is female, karyotype 46, XY, the gonads are testes, while uterus and tubes are absent. On the contrary, the patients with Swyer’s syndrome have uterus and cervix which are hypoplastic.
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