Atypical circumstances of 46,XY female diagnosis

Z. Haouchine*^a (Dr), A. Vujovic^a (Dr), J. Desir^a (Pr), B. Corvilain^a (Pr), N. Driessens^a (Pr)

^a Erasme Hospital, Faculty of Medicine, Université Libre de Bruxelles, Belgium, Bruxelles, BELGIQUE

* zakaria.haouchine@erasme.ulb.ac.be

A 35-year-old woman was referred to the endocrinologist after measurement of an increased serum total testosterone above 8-fold the upper value of the normal range [6.5 ng/ml (N: 0.2-0.8)]. She spontaneously reported recent hair loss. Anamnesis reported a primary amenorrhea and a consanguineous family. At clinical examination, she was slightly overweight (height: 167 cm; weight: 77 kg; BMI: 28) with a normal breast development and adult external genitalia but no axillary or pubic hair. There was no hirsutism nor acne nor hyperseborrhea. Biology showed normal 17-hydroxy-progesterone (1.12 ng/ml) and elevated AMH [98 ng/ml (N: 1.5-6.5)]. Pelvic ultrasonography revealed an absence of uterus, a short vagina and bilateral intraabdominal gonads without follicles nor individualized tumor. The absence of sexual hair contrasted with the high levels of total testosterone suggesting an androgen resistance. The elevated AMH suggested a testicular origin and explained the absence of uterus. Caryotype was 46XY confirming the suspected diagnosis of complete insensitivity to androgens syndrome (CAIS).

CAIS is a rare cause of primary amenorrhea with normal breast development. The medical management consists in bilateral gonadectomy after pubertal induction in order to prevent the risk of gonadal cancerization.

The particularity of the present case is the atypical circumstances of diagnosis which demonstrate the importance of the psychological care and the need of a multidisciplinary team. Indeed, our patient has a female phenotype without ambiguity and a female sexual and social identity despite her male genotype.

L’auteur n’a pas transmis de déclaration de conflit d’intérêt.