A case with 21-hydroxylase deficiency combined with adrenal adenoma and testicular adrenal rest tumors

VernacularTitle:21-羟化酶缺陷症伴肾上腺腺瘤及睾丸肾上腺残余肿瘤一例
Author: Manna ZHANG ; Shouyue SUN ; Yuejun LIU ; Weiqiong GU ; Jianming LIU ; Jie HONG ; Guang NING ; Xiaoying LI
Publication Type:Journal Article
Keywords: 21-hyclroxylase deficiency; Testicular adrenal tumors rest; CYP21gene; Gene mutation
From: Chinese Journal of Endocrinology and Metabolism 2011;27(4):315-319
CountryChina
Language:Chinese
Abstract: Objective To investigate the clinical and genetic characteristics in a male patient with 21hydroxylase deficiency combined with adrenal and testicular tumors.Methods Clinical features and laboratory data were collected from the patient.Testicular biopsy was performed.The CYP21 gene was sequenced for mutations.Results The patient presented left adrenal and testicular enlargements.The laboratory examinations showed that plasma ACTH,androstenedione,testosterone,progesterone,and 17-hydroxyprogesterone were markedly elevated.CT scan revealed that the right adrenal gland being resected and the left adrenal with nodular enlargement.Furthermore,testicular biopsy showed a prominent peritubular fibrosis with increased number of peritubular fibroblasts,tubular hyalinisation,and calcification.Sequencing analysis showed a A>G homozygous mutation at intron 2.Conclusion Patients with untreated 21-hydroxylage deficiency may.have adrenal adenomas and(or)testicular adrenal rest tumor simultaneously.