ESPE Abstracts

Key words: Dysgerminoma, gonadoblastoma, virilization

Introduction: Gonadoblastoma is a rare ovarian tumor composed of sex cord cells and primitive germ cells. Although it is frequently seen in patients with 46,XY gonadal dysgenesis, it is also rarely seen in patients with a 46,XX karyotype. Here, we report a girl with a 46,XX karyotype presenting due to an uncommon cause of virilization, which was caused by bilateral gonadoblastoma and dysgerminoma.

Case: A 14.5-year-old girl with significant hirsutism for the last 2 months was admitted to outpatient clinic. She was born at term, with appropriate weight for gestational age to first-degree consanguineous parents, and her family history was unremarkable. Puberty started at the age of 10.5 years and menarche has not occurred yet. At the initial evaluation, her weight, height, and body mass index were 42.7 kg (-1.95 SDS), 158.1 cm (-0.5 SDS), and 17.08 kg/m2 (1.85 SDS), respectively. Pubertal stage was Tanner stage 4. On genital examination, a 1.5 cm measured clitoromegaly was noted and, gonads were unpalpable. The modified Ferriman Gallwey (mFG) score was calculated as 16 and a deepening of the voice was also remarkable. Hormonal evaluation was consistent with hypergonadotropic hypogonadism (FSH 87.6 mIU/L, LH 43.4 mIU/L). Total testosterone level was high (1.07 ng/mL). Adrenal androgen levels were within normal ranges and congenital adrenal hyperplasia was excluded with ACTH stimulation test, and no adrenal mass was observed on imaging. On pelvic imaging, uterus and ovarian volumes were consistent with the pubertal stage. Tumor markers including β-hCG, α-fetoprotein, and lactate dehydrogenase were normal. Karyotype analysis revealed 46,XX, and PCR analysis showed the absence of the SRY gene. The patient, who did not come to follow-up for about 2 years was reevaluated at the age of 16.3 years with the complaint of progressive hirsutism. The mFG score was 22, clitoromegaly was measured as 3 cm. Abdominopelvic MRI showed that bilateral ovaries were fibrotic, however, no abdominal or gonadal mass was visualized. A laparoscopic gonad biopsy revealed bilateral gonadoblastoma and dysgerminoma on the right ovary, and bilateral gonadectomy was performed ultimately. There was no pathological FDG uptake on PET/CT and she did not require chemotherapy. Following the gonadectomy, hormone replacement therapy was started.

Conclusion: Malignant gonadal tumors should be kept in mind in cases with primary gonadal insufficiency with a 46,XX karyotype and progressive virilization. Even when laboratory and imaging tests show no abnormalities, gonadal biopsy should be considered.