Endocrine Abstracts

JOINT2435

Introduction: Dehydroepiandrosterone sulfate (DHEAS) levels typically increase during adrenarche, decreasing over time. Elevated DHEAS is also found in congenital adrenal hyperplasia and adrenal tumors.

Clinical Case: A 23-year-old male presented with a two-year history of left-sided painful gynecomastia. He denied any complaints of nipple discharge, decreased libido, abdominal pain, or fatigue. Over the previous 6 months, he had gained 7kg, attributing this to a resistance training regimen. He had no chronic medication and denied any previous/current anabolic steroids consumption, reporting only the use of over-the-counter creatine and Whey-protein supplements (since he started his gym routine). Pubertal development was normal. His medical history included childhood testicular trauma without lasting effects. He expressed no desire for children in the near future. Clinical examination revealed mild left retroareolar gynecomastia, normal blood pressure, and no cushingoid features. No abnormalities were found on testicular examination. Blood test revealed a normal gonadotrophic axis, with no thyroid disfunction and normal prolactine, 17-hydroxyprogesterone, and hCG serum levels, as well as normal renal and hepatic function. Two separate blood samples revealed elevated serum estradiol (first sample: 1.9 times the upper limit (TUL); second sample: 1.3 TUL) and DHEAS (first sample: 1.3 TUL; second sample: 1.6 TUL). Breast ultrasound confirmed gynecomastia without additional abnormalities. Adrenal CT did not reveal masses but suggested possible bilateral hyperplasia. A dexamethasone suppression test with 0.5mg every 6 hours for 48 hours effectively normalized DHEAS levels, with a 51% reduction from baseline.

Discussion: This is a challenging case concerning the patient’s management and follow-up: is this elevated DHEAS a normal variant? Could it indicate a genetic defect in steroid sulfate transporter proteins, and if so, is it clinically relevant to perform a genetic test as it may impact his descendants? What approach should be taken for monitoring this patient, whether clinical, biochemical, or both?