Clinical characteristics and CYP17A1 gene mutation analysis in patients with 17α-hydroxylase/17, 20-lyase deficiency and testicular tumor

VernacularTitle:17α-羟化酶/17，20碳链裂解酶缺陷症合并睾丸肿瘤临床及CYP17A1基因突变分析
Author: Binbin HAN ¹ ; Ruizhi ZHENG ; Yidan XIE ; Yiqi CHEN ; Jipan NIU ; Yun ZHANG
Author Information

1. 河南省人民医院内分泌科，郑州450003
Keywords: Sexual development; Testicular neoplasms; 17α-Hydroxylase/17, 20-lyase deficiency; CYP17A1
From: Chinese Journal of Internal Medicine 2021;60(9):827-830
CountryChina
Language:Chinese
Abstract: The 17α-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare disease. The clinical characteristics and gene mutation of 2 late-diagnosed 17-OHD patients with testicular tumor admitted to our hospital from March 2018 to February 2019 were analyzed retrospectively. The two 17-OHD patients were female (46, XY). Laparoscopic abdominal exploration found undeveloped testicles in grey-yellow or grey-red in the groin and iliac fossa. The testicles were removed and showed malignancy in pathology study. Sequencing of the CYP17A1 gene identified c.1247G>A/c.1427T>C and c.985_987delTACinsAA/c.1306G>A complex heterozygous mutations. Taking together, the possibility of 17-OHD should be considered in patients with hypertension, hypokalemia, adrenal adenomatoid hyperplasia together with 46, XY gonadal dysplasia, so as to make early diagnosis and treatment, and avoid dysplastic testicular turning to malignancy.