Читать книгу Ridley's The Vulva - Группа авторов - Страница 39

These patients have a 46,XY karyotype, but do not possess any gonadal tissue. It is characterised by the presence of ambiguous genitalia in association with hypoplastic Müllerian and Wolffian derivatives. Clitoral enlargement, ill‐developed labia majora, and fusion of the labioscrotal folds are features of the external genital appearance. Genetic mutations, including those of the SRY gene, have been reported [39]. It is sometimes referred to as Swyer syndrome, and one of the most important aspects of this condition is the increased incidence of gonadal neoplasms. Bilateral gonadectomy is therefore indicated as a prophylactic measure. Early sex hormone therapy is needed for normal puberty and bone mineral accumulation [40].