Original Article
Clinical features and genetic characteristics of 33 patients with simple virilizing form of 21-hydroxylase deficiency
Zeng Liting, Han Bing, Liu Bingli, Chen Xia, Zhu Hui, Chen Yan, Chen Ming, Liu Jianhua, Liu Yang, Qiao Jie
Published 2019-06-01
Cite as Chin J Intern Med, 2019, 58(6): 428-434. DOI: 10.3760/cma.j.issn.0578-1426.2019.06.006
Abstract
ObjectiveTo analyze the clinical features and genotypes of adult patients with simple virilizing form of 21-hydroxylase deficiency (SV 21-OHD).
MethodsThis 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.
ResultsThe 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.
ConclusionsShort 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.
Key words:
21-Hydroxylase deficiency; Simple virilizing; CYP21A2 gene; Mutation
Contributor Information
Zeng Liting
Department of Endocrinology, Ninth People′s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
Han Bing
Department of Endocrinology, Ninth People′s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
Liu Bingli
Department of Endocrinology, Nanjing First Hospital, Nanjing Medical University, Nanjing 210012, China
Chen Xia
Department of Endocrinology, Shanghai Fourth People′s Hospital Affiliated to Tongji University School of Medicine, Shanghai 200081, China
Zhu Hui
Department of Endocrinology, Ninth People′s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
Chen Yan
Department of Gynecology, Ninth People′s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
Chen Ming
Department of Gynecology, Ninth People′s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
Liu Jianhua
Department of Gynecology, Ninth People′s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
Liu Yang
Department of Plastic Surgery, Ninth People′s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
Qiao Jie
Department of Endocrinology, Ninth People′s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
