Surgical Reconstruction of the Genitalia in a 3-Year-Old Infant with a 46XX Karyotype: Case Report

A 3-year-old patient was hospitalized with ambiguous genitalia (clitoromegaly, labioscrotal fusion, absence of vaginal introitus), classified as stage III/IV according to Prader’s virilization scale. Our patient, with a 46XX karyotype, was previously diagnosed with congenital adrenal hyperplasia caused by a deficiency of the adrenal enzyme 21-hydroxylase; corticosteroids and salt replacement therapy have been used. At the present admission, the surgical treatment consisted on clitoroplasty (with the removal of erectile tissue), reconstruction of the labia minor, creation of a neovulva and vaginoplasty. It was a single-step operation to restore the anatomical female structures. She had an uneventful postoperative period and the wound healed well with good cosmetic results. We present the details about the surgical procedure and a short review of data from literature.

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