Silent Threat: A Complex Presentation of Testicular Adrenal Rest Tumors in a Male With Congenital Adrenal Hyperplasia

无声的威胁:先天性肾上腺增生症男性睾丸肾上腺残余肿瘤的复杂表现

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Abstract

Congenital adrenal hyperplasia (CAH) with testicular adrenal rest tumor (TART) is a sequela of 21-hydroxylase deficiency in the background of adrenal hyperplasia in most cases. We report a case of a 10-year-old boy who presented with a 7-day history of headache, vomiting, and abdominal pain, and had a blood pressure of 200/140 mmHg with a pulse rate of 84 bpm, consistent with a hypertensive emergency. Clinical presentation showed precocious puberty with virilization. The patient appeared like an adult male with well-developed secondary sexual characters and Tanner staging IV was assessed. Hard nodular testicular swellings were present on both sides. Regular laboratory investigations showed elevated urea and creatinine, suggesting renal failure. Imaging revealed bilateral enlarged adrenal glands and right testes were found to have a homogeneous hypoechoic mass. Ophthalmoscopy confirmed Grade IV retinopathy. After comprehensive evaluation and investigations, the final diagnosis was made to be CAH with right-sided TART with hypertensive emergency with renal AKI and grade IV hypertensive retinopathy. He was treated initially with antihypertensives followed by hydrocortisone and NSAIDs. Early diagnosis is significant in CAH with TART to prevent infertility and irreversible testicular damage.

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