Etiological structure of disorders of sex development 46,XY
AbstractAim - to study the structure of disorders of sex development (DSD) 46,XY.
Material and methods. It was included 57 patients with DSD 46,XY. All children evaluated the structure of the external and internal genitalia, hormonal evaluated. There was removed from 23 gonads of 15 patients with subsequent histological examination.
Results and discussion. After complex examination all patients were divided in groups: disorders of gonadal (testicular) development, disorders in androgen synthesis or action and syndrome (Smith-Lemli-Opitz syndrome).
Conclusion. Only 53% of patients with DSD had a verified variant of nosological pathology at that in group 46, XY DSD. 24% of patients with 46,XY DSD had a mutation in genes involved in sex development.
Keywords:нарушение формирования пола, дисгенезия гонад, синдром нечувствительности к андрогенам