Endocrine Abstracts

A 36-year-old man from Romania was referred to the urology clinic with a two-year history of a painful left testicular swelling. On examination, both testes had multiple solid non-tender masses. An ultrasound scan of the testes showed bilateral, symmetrical infiltration of both testes, with scattered calcifications and enhanced blood flow. The differential diagnosis included testicular cancer, granulomatous diseases, leukaemia and adrenal rests. A CT scan showed no metastatic/nodal disease. Blood tests showed normal urea and electrolytes, full blood count, hCG, LDH and alpha-fetoprotein. He was referred to the Royal Marsden Hospital urologists, who reviewed in Testicular Supranetwork MDT meeting, and recommended a bilateral orchidectomy. He had no children but was keen to start a family. Analysis of two semen samples showed azoospermia. He was offered referral to a local fertility centre for micro-surgical testicular sperm extraction or referral to a specialist centre for extraction of sperm at the time of orchidectomy, but was concerned about having cancer and delaying treatment, so he decided to proceed to bilateral orchidectomy. Post-operatively, he was discharged on Testosterone gel 40mg daily. The endocrine team subsequently received a referral as he was fatigued and dizzy post-operatively, with nausea and vomiting and also his histopathology report suggesting the possibility of the adrenogenital syndrome with a differential diagnosis of Leydig cell tumours. In endocrine clinic, he reported taking prednisolone throughout his life, but he didn’t know the indication of it, therefore GP was not able to prescribe steroid, so he continued to source it from Romania. He reported was extremely poorly as a neonate and was transferred from the rural hospital to the main hospital in Bucharest. He was of short stature (154 cm), and short compared to his family. His sister was fit and well. Post-operative blood tests showed a low sodium 125 mmol/l, high potassium 5.9 mmol/l, midday cortisol 74 nmol/l. Subsequent biochemical and genetic tests confirmed the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (17-OH-P 739 nmol/l). The plasma aldosterone was 170 pmol/l by mass spectrometry, with a renin of 12080 mU/L. Re-review of ‘staging’ CT scan confirmed bilateral diffuse nodular adrenal enlargement. Discussion points include whether the diagnosis of testicular adrenal rest tumors should have been made pre-operatively, and if subsequent treatment could have restored fertility. It highlights the importance of discussing testicular swellings prospectively with male patients with CAH to ensure appropriate management.