Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency Presented With Leydig Cell Tumor and Testicular Adrenal Rest Tumors: A Case Report

11β-羟化酶缺乏引起的先天性肾上腺增生症伴Leydig细胞瘤和睾丸肾上腺残余肿瘤:病例报告

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Abstract

Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency is an uncommon disorder characterized by impaired cortisol synthesis, hyperandrogenism, and mineralocorticoid excess. The coexistence of Leydig cell tumors (LCTs) and testicular adrenal rest tumors (TARTs) is rarely reported, highlighting the diagnostic and therapeutic challenges in such cases. A 35-year-old man with a history of hypertension and infertility presented with left testicular masses. His medical history was significant for a prior right orchiectomy, with pathology confirming LCT. Subsequent evaluations revealed azoospermia, elevated adrenal androgen levels, adrenocorticotropic hormone (ACTH) and 17-OH progesterone levels indicative of CAH due to 11β-hydroxylase deficiency. Imaging studies identified left testicular masses and bilateral adrenal myelolipomas. The patient was managed with oral dexamethasone and eplerenone, resulting in normalization of blood pressure and electrolytes. This case highlights the complexity of CAH presentations with overlapping testicular and adrenal pathologies. Patients with such conditions should be closely monitored and regularly checked for common complications to ensure timely intervention and optimal management.

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