ESPE Abstracts (2018) 89 P-P2-035

Pseudopubertas Praecox in a 4 Year Old Boy with Bilateral Atypical Adrenocortical Adenomas

Corinna Brichta, Michael Wurm, Franka Hodde, Natascha van der Werf-Grohmann & Karl Otfried Schwab

Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre, Freiburg, Germany

Introduction: Adrenocortical tumors are very rare in children, with a prevalence of just 0.3 cases/million/year. Autonomic hormone production by adrenal cortical tumors may cause peripheral precocious puberty.

Case report: A 4-year-old boy was presented by his parents because of pubertal behavior with aggressive features and a significant increase in the size of the penis. The parents also noticed a strong growth spurt and sweat odor. The boy had a good general condition and a very muscular habit. Height and weight were in the 97th percentile range. Tanner Stage was G3-4 P1-2 with a testicular volume of 4 ml and a stretched penis length of 9 cm. He had an adult testosterone concentration and prepubertal gonadotropins. DHEAS and 17-OH progesterone were significantly elevated. ACTH was normal. Congenital adrenal hyperplasia could be excluded by ACTH test and molecular genetic diagnostics. The LHRH test was able to exclude a central precocious puberty. The MRI showed a bilateral, well-defined mass in the area of both adrenal glands. A laparoscopic tumor excision with partial adrenal resection was performed. Histological examination assessed both tumors as benign, but both tumors showed strong nuclear p53 overexpression. In addition, a germline mutation of the p53 tumor suppressor gene could be detected. Li-Fraumeni syndrome (LFS) is a classic cancer predisposition disorder that is commonly associated with p53 germline mutations. After resection of the tumors, serum steroids normalized and clinical signs regressed. The boy receives a tumor follow-up according to the Toronto Protocol: Ultrasound of abdomen and pelvis and determination of tumor markers every 3 months.

Conclusion: Adrenocortical neoplasms are a rare but significant cause for precocious puberty. The bilateral occurrence of adrenal cortical tumors suggests the presence of a genetic tumor predisposition.

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