Clinical characteristics and steroid hormone LC-MS/MS analysis in four male patients with 17α-hydroxylase/17, 20-lyase deficiency
10.3760/cma.j.cn311282-20250530-00290
- VernacularTitle:四例男性表型17α-羟化酶/17，20-裂解酶缺陷症临床特征及类固醇激素质谱分析
- Author:
Wei ZHANG
1
;
Yuying YANG
;
Sichang ZHENG
;
Yuwen ZHANG
;
Wencui WANG
;
Rulai HAN
;
Yiran JIANG
;
Yizhi HE
;
Lei YE
;
Shouyue SUN
Author Information
1. 上海交通大学医学院附属瑞金医院内分泌代谢病科，上海 200025
- Publication Type:Journal Article
- Keywords:
17α-hydroxylase/17, 20-lyase deficiency;
Male phenotype;
Liquid chromatography-tandem mass spectrometry
- From:
Chinese Journal of Endocrinology and Metabolism
2025;41(10):837-843
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical characteristics and gene mutations of 4 patients with the male phenotype of 17α-hydroxylase /17, 20-lyase deficiency(17-OHD), in order to improve the recognition and appropriate management of atypical cases.Methods:A retrospective analysis was performed on the clinical features, biochemical findings, and gene mutations of 4 patients with the male phenotype of 17-OHD treated in our hospital between 2018 and 2023.Results:The social gender of all 4 patients with 17-OHD was male. None of the 4 patients had hypertension or hypokalemia, but all had micropenis and gynecomastia. Two patients had adrenal hyperplasia, while adrenal morphology was normal in the other two. One patient had decreased bone mass. There were typical changes in the steroid synthesis-related hormone spectrum: progesterone was significantly elevated in all 4 patients, 17-hydroxyprogesterone was not markedly abnormal, cortisol, dehydroepiandrosterone sulfate(DHEAS) and estradiol levels were low, and testosterone levels were also low.Conclusion:17-OHD is a rare type of congenital adrenal hyperplasia, with the male phenotype being even rarer. Early symptoms are often atypical, resulting in high rates of misdiagnosis and missed diagnosis. Patients without hypertension and hypokalemia are particularly prone to diagnostic confusion. Male patients with unexplained progesterone elevation, poor secondary sexual development, and gynecomastia should undergo timely steroid hormone profiling and genetic testing to avoid misdiagnosis and missed diagnosis.
