Background: Swyer syndrome (46,XY pure gonadal dysgenesis) is a rare disorder, which is characterized by female phenotype, female internal genitalia and fibrotic and primitive gonads. Classically, breast development and menstruation are absent due to hypergonadotropic hypogonadism.
Objective and hypotheses: To our knowledge, three cases of Swyer syndrome with spontaneous breast development have been reported so far. In these reports, breast development was suggested to be due to estrogen secretion from the neoplastic tissue, limited ovarian functions, and aromatization of androgens to estrogen or increased sensitivity to estrogen in breast tissue. Additionally, one patient with regular menstrual cycles linked to estrogen secretion from gonadoblastoma was also reported.
Methods: A 15-year-old girl presented to our clinic with the complaint of amenorrhea. Thelarche and pubarche have occurred at the ages of 10 and 11 years respectively. Her weight was 55.2 kg (0.25 S.D.), height was 165.5 cm (0.95 S.D.), with a BMI of 20.1 kg/m2 (0.10 S.D.). Her external genitalia was completely female with a breast development and pubic hair compatible with Tanner stage V. The rest of the physical examination was unremarkable.
Results: Her laboratory findings were as follows; FSH: 45 mIU/ml, LH: 13 mIU/ml, E2: 66 pg/ml, total testosterone: <20 ng/dl, progesterone: <0.2 ng/dl, 17-OH progesterone: 1.5 ng/dl, DHEA-S: 121 μg/dl, prolactin: 5.3 ng/ml, and β-HCG: 0 mIU/ml. A pelvic ultrasound revealed small ovaries (1.4 and 2.4 cm3) and a uterus of 6×2.5×2.3 cm in size. Her karyotype was 46,XY and SRY (+). A clomiphene citrate challenge test showed an insufficient ovarian reserve. Thereafter, for nine months, the patient had regular, spontaneous menstrual cycles. On follow-up, the patient underwent diagnostic laparoscopy. After bilateral salpingo-oophorectomy histopathological examination of the specimen revealed gonadoblastoma.
Conclusion: In this rare case of 46,XY pure gonadal dysgenesis breast development and menstrual cycles were considered to be due to the active hormone secretion from the gonadoblastoma.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology