ESPE Abstracts

We present a 13-year old boy, who presented with acute testicular pain. Examination revealed bulky, nodular testicular enlargement. Testicular ultrasound showed multifocal, hyperechoic, calcified masses in both testes, characteristic of large cell calcifying Sertoli cell tumours (LCCSCTs), following which he was referred to endocrinology. He had a history of benign skin tags and a previous chest wall tumour, confirmed as a lipoblastoma on histology. Physical examination showed no dysmorphic features, but he had multiple small lentigines over his face. He had grade 2 gynecomastia and was in mid-puberty. Initial investigations showed advanced bone age, and high Estradiol and Anti-Mullerian hormone. Carney Complex (CC) was considered the likely diagnosis. LCCSCTs are seen exclusively in CC and Peutz-Jeghers syndrome. Both are rare genetic disorders, that predispose to tumour development. In CC, tumours arise in heart, skin, and endocrine glands. It is caused by mutations in several genes, notably PRKAR1A. Genetic testing confirmed a previously unreported de novo pathogenic mutation (c.503-1G>A) in PRKAR1A, confirming the diagnosis. As part of his evaluation, he underwent an MRI of Chest & Abdomen, which showed enlarged para-aortic lymph nodes, for which he underwent laparascopic resection to exclude another tumour or metastasis. Histology showed reactive lymphoid follicular hyperplasia. Following the lymph node biopsy result, the patient started anastrozole. LCCSCTs overexpress the enzyme aromatase, resulting in elevated estrogen with gynecomastia, and advanced bone age, as in our case. Anastrozole blocks the aromatization of testosterone to estradiol and has been shown to be beneficial in several reported cases of LCCSCT, resulting in reduced tumour size and preserving fertility. This complex case highlights the challenge of timely diagnosis and management of CC. His treatment required a multidisciplinary approach involving key medical specialties – notably endocrinology, radiology, surgery, plastic surgery, cardiology, histopathology, genetics and oncology. We had to proceed with investigations on the basis of the likely diagnosis, pending genetic results, which are vital for confirmation of the diagnosis. LCCSCTs are rare – even more so in association with CC – with just a handful of reported pediatric cases. Presentation with pre- or peripubertal gynecomastia and testicular enlargement should point to the diagnosis. In the past, orchidectomy was commonly performed, but LCCSCTs are overwhelmingly benign and respond well to aromatase inhibitors. He will remain under long-term endocrine and oncology follow-up.