ESPE Abstracts

Introduction: Gynecomastia is common in boys at early-mid puberty, while prepubertal gynecomastia is a rare condition. Sertoli cell tumors (SCTs) account for 2% of prepubertal testicular tumors. Most of the SCTs in prepubertal boys, which are generally bilateral and diffuse, are in the content of Peutz-Jeghers Syndrome (PJS) or other familial syndromes (Carney complex). Large cell calcifying Sertoli cell tumor (LCCSCT) is a variant of SCT and is seen in PJS. In LCCSCTs, aromatase enzyme expression is increased, which causes gynecomastia and advanced bone age.

Case: An eight-and-a-half-year-old male was referred with the complaint of stiffness in both breasts. He was born with a birth weight of 2800 g at term. When he was six months old, he was diagnosed with PJS as a consequence of the endoscopic examination. He was the first child of non-consanguineous parents. His grandmother and aunt had had colon cancer. His weight was at 1.7 SDS, height 3 SDS, and BMI 0 SDS. There were two dark pigmented lesions on the buccal mucosa. He had bilateral gynecomastia corresponding to Tanner stage 2. Pubic hair was at Tanner Stage 1 and testicular volumes were 4 mL bilaterally. Complete blood count, liver, renal, and thyroid functions tests were within normal ranges. Hormonal values were as follows: follicle-stimulating hormone:0.53mIU/l (N:1.3-19.3), luteinizing hormone: 0.05 mIU/l (n<0.3, prepubertal), total testosterone: 0.02 ng/ml (N:2.59–8.16), estradiol: 32 pg/ml (<20), estrone:24 pg/ml (N: 5-17), prolactin: 6.56 ng/ml (N: 3-14.7), 17-hydroxyprogesterone: 0.5 ng/ml (N: 0.5-2), androstenedione: <0.3 ng /ml (N: 0.6-3.1), dehydroepiandrosterone sulfate: 25.6 mg /dL (N: 2.5-145), human chorionic gonadotropin: <0.5 mIU/ml (N: <5.3). Bone age was 10.5 years. The annual growth velocity was determined to be 9 cm/year. Testicular ultrasound showed bilateral multifocal calcifications, the largest of which was 3 mm. Anastrozole (1 mg/day) treatment was initiated. During the follow-up, gynecomastia completely regressed. Growth velocity and pubertal development were convenient with their peers. There were no changes in the size, number, or characteristics of the calcifications. After four years of medication, anastrozole treatment was discontinued. However, anastrozole was restarted due to recurrence of gynecomastia after six months.

Conclusion: Testicular tumor should be investigated in a patient with PJS who presents with prepubertal gynecomastia. When findings are consistent with LCCSCT, biopsy may not be needed and aromatase inhibitors may be preferred in the treatment to reduce gynecomastia and delay skeletal maturation.