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

VernacularTitle:一例以不育为主诉的极轻型胆固醇侧链裂解酶缺陷症
Author: Shouyue SUN ; Lei YE ; Jieli LU ; Weiqiong GU ; Tingwei SU ; Jing XIE ; Xiaoyi ZHOU ; Rulai HAN ; Weiqing WANG ; Guang NING
Publication Type:Journal Article
Keywords: Congenital adrenal hyperplasia; P450scc deficiency; Testicular adrenal rest tumor
From: Chinese Journal of Endocrinology and Metabolism 2016;32(7):607-610
CountryChina
Language:Chinese
Abstract: [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.