PMID: 16649524May 3, 2006Paper

Partial testicular feminization syndrome

Archivos españoles de urología
Vicente Osorio Acosta, Francisco J Alonso Domínguez

Abstract

To report one case of partial androgen insensitivity syndrome. The patient underwent history and physical examination, blood tests, hormone determinations, androgen stimulation and suppression tests, nuclear chromatin and karyotype, imaging and endoscopic tests, exploratory laparoscopy with gonadal biopsy and bilateral orchyectomy, and subsequent genital plasty. We report the case of a phenotypically female patient with genital ambiguity, with a dorsally curved peniform clitoris and a urogenital sinus with partial labia fusion. Blood tests, hormonal determinations, and androgen stimulation-suppression tests were all normal. Both ultrasound and laparoscopy showed absence of internal genitalia. The biopsy showed testicles with relative Leydig cell hyperplasia and slight basal membrane thickening. The cosmetic and functional results were completely satisfactory with normal sexual intercourse. The reinforcement of the generic role after genital plasty provided satisfactory identification and sexual performance.

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