Clinical features and genetic characteristics of 33 patients with simple virilizing form of 21-hydroxylase deficiency
10.3760/cma.j.issn.0578-1426.2019.06.006
- VernacularTitle:33例成人单纯男性化型21-羟化酶缺陷症的临床特点与基因型研究
- Author:
Liting ZENG
1
;
Bing HAN
;
Bingli LIU
;
Xia CHEN
;
Hui ZHU
;
Yan CHEN
;
Ming CHEN
;
Jianhua LIU
;
Yang LIU
;
Jie QIAO
Author Information
1. 上海交通大学医学院附属第九人民医院内分泌科 200011
- Keywords:
21-Hydroxylase deficiency;
Simple virilizing;
CYP21A2 gene;
Mutation
- From:
Chinese Journal of Internal Medicine
2019;58(6):428-434
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the clinical features and genotypes of adult patients with simple virilizing form of 21-hydroxylase deficiency (SV 21-OHD).Methods This is a retrospective study including 33 patients with SV 21-OHD from January 2015 to March 2018 in the Ninth People's Hospital of Shanghai Jiao Tong University School of Medicine.Results The diagnostic age of the patients was (26.3± 6.5) years old.All patients presented with signs of masculinization,such as short stature (100％),clitoromegaly/microphallus (89.65％,26/29),undeveloped breasts (82.76％,24/29),deep voice (55.17％,16/29) and primary amenorrhea (89.65％,26/29).The serum levels of 17-hydroxyprogesterone (17-OHP),androstenedione (AD) and testosterone were significantly elevated in 90.9％,93.9％ and 91.2％ of the patients,respectively.Thirteen types of mutations were identified in CYP21A2 from these patients.Among them,I173N accounted for 40％ and I2 G accounted for 18.33％.Four patients were found with multiple mutations in CYP21A2.Conclusions Short stature,clitoromegaly/microphallus and primary amenorrhea are the most common clinical features in adult patients with SV 21-OHD.Serum levels of 17-OHP and AD are important indices for the diagnosis and monitoring of the patients.I173N and I2 G are the two most prevalent mutations in patients of the present study.Limitation of clinical recognition and delay in treatment contribute to the short stature of the SV 21-OHD patients.
