Endocrine Abstracts

Introduction: Swyer syndrome is a rare sex development disorder characterized by pure 46 XY gonadal dysgenesis. It is associated with aberrations in testicular determination and differentiation leading to a female morphotype with presence of external and internal female genitalia, undifferentiated fibrous gonads, a male karyotype and hypergonadotropic hypogonadism. We present the case of a 46 XY adolescent female with complete gonadal dysgenesis diagnosed following her hospitalization in the endocrinology department for a suspicion of Cushing syndrome.

Case presentation: A 18-year-old female patient with no medical history was referred to our department for suspicion of Cushing syndrome. She had primary amenorrhea and reported weight gain within 2 years. On physical examination, her body mass index was 34.5 kg/m2 with a height of 156 cm. She had round moon face, red cheeks, a buffalo neck, thin arms and legs, and abdominal purple stretch marks. She had a female morphotype, normal female-type external genitalia with secondary sexual characters rated S4, P3 and A3 according to Tanner’s classification. A 4-mg dexamethasone suppression test reduced the serum cortisol level to 0,3µg/dl excluding the diagnosis of Cushing syndrome. Hormonal investigations revealed elevated pituitary gonadotropin levels with FSH at 34.9 UI/l and LH at 15.8 UI/l. The testosterone and prolactin level were normal at 0.92 nmol/l and 9 ng/ml respectively. A pelvic ultrasound confirmed the presence of 2 small non-follicular ovaries with uterine hypoplasia (25X17X8mm). The karyotype was male “46 XY”. The diagnosis of pure 46 XY gonadal dysgenesis was made. A hormone replacement therapy was applied and the patient was referred to a gynecologist for bilateral prophylactic gonadectomy.

Conclusion: In light of this case, we wish to draw attention to a serious sex-reversal disorder that affects women in their identity, Swyer syndrome revealed here by an unusual circumstance of discovery. This pathology is associated with a higher risk of malignant degeneration and an elevated incidence of gonadal neoplasia mainly the gonadoblastoma and dysgerminoma highlighting thus the paramount urge of preventive adnexectomy. Similarly, a screening of the siblings with female morphotype is necessary since this disorder is related to mutations or deletions in several genes such as SRY that can be inherited genetically.