[Clinical features and genetic characteristics of 33 patients with simple virilizing form of 21-hydroxylase deficiency].
Zhonghua Nei Ke Za Zhi
; 58(6): 428-434, 2019 Jun 01.
Article
en Zh
| MEDLINE
| ID: mdl-31159521
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Esteroide 21-Hidroxilasa
/
Hiperplasia Suprarrenal Congénita
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Límite:
Adult
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Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Nei Ke Za Zhi
Año:
2019
Tipo del documento:
Article
País de afiliación:
China