一例以不育为主诉的极轻型胆固醇侧链裂解酶缺陷症

Extremely mild cholesterol side chain cleavage enzyme deficiency with infertility as the only presenting complaint

已经报道的胆固醇侧链裂解酶（P450cc）缺陷症均表现为肾上腺皮质功能不全。本文报道了1例以不育为主诉的成人男性极轻型P450cc缺陷症。患者曾因不育就诊于泌尿外科，有双侧睾丸间质细胞瘤手术病史。入住本院内分泌科后进一步病理学分析提示睾丸残余肾上腺瘤，结合患者极高的血浆ACTH、双侧肾上腺增生，诊断为先天性肾上腺皮质增生症。进一步基因筛查发现 CYP11A1R353W和CYP11A1P432L复合杂合突变，患者最终确诊为P450cc缺陷症。

[Summary] All patients with cholesterol side-chain cleavage enzyme （ P450scc） deficiency that have been reported presented with early adrenal failure. Here we described a 35-year-old male presented with infertility as the only initial presenting complaint. He had received two separate surgeries to remove bilateral testicular masses. We reevaluated the resected tumors and found testicular adrenal rest tumor （ TART） pathology in the resected tumor. We profiled steroid hormones and found significantly elevated ACTH. CT scan revealed bilateral adrenal hyperplasia. Mutation screening identified compound heterozygous mutations （R353W and P432L） in the P450scc encoding gene （CYP11A1）. The patient was finally diagnosed as congenital adrenal hyperplasia.