Endocrine Abstracts

Introduction: Sexual differentiation depends on a succession of events, each stage of which may be the site of abnormalities resulting in sexual ambiguitý.

Case report: 17-year-old female patient, consults for primary amenorrhea. On physical examination the morphotype is female, height is normal, secondary sexual characteristics are Tanner stage 1 with sexual ambiguitý Prader stage 4, No palpable testes with a subpenile Orifice. Pelvic ultrasound showed the presence of small bilateral oval subvesical images seat of small cystic areas that may be related to seminal vesicles, absence of images suggestive of uterus or ovaries. pelvic MRI showed images compatible with prostate, seminal vesicles and aplastic penis. Hormonal exploration showed hypergonadotropic hypogonadism, testosterone was 3ng/dl, and the karyotype was male, allowing us to make the diagnosis of a pure XY ADS 46. Concerning the therapeutic management, the patient will benefit from a gonadectomy with a vaginoplasty.