The analysis of gene mutation and diagnosis and treatment of 5α-reductase 2 deficiency in a child
10.3969/j.issn.1000-3606.2017.04.014
- VernacularTitle:5α-还原酶2型缺乏症1例临床及基因分析
- Author:
Ruizhen LI
;
Shuang LI
;
Jing WU
;
Jun WANG
;
Hui YAO
;
Xiaoli HUANG
;
Xiaohong CHEN
;
Luhong YANG
;
Yuan QIN
- Keywords:
46;
XY disorders of sex differentiation;
steroid 5α-reductase 2 deficiency;
SRD5A2 gene;
AR gene
- From:
Journal of Clinical Pediatrics
2017;35(4):296-299
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical feature and gene mutation in steroid 5α-reductase 2 deficiency (SRD5A2). Method The clinical data of SRD5A2 in a child with vulva abnormality as the first manifestation was retrospectively analyzed. Results This was a 29-month-old child, whose social gender was female. The level of her basic luteinizing hormone (LH) was 0.07 mIU/mL, and follicle-stimulating hormone was (FSH) 0.39 mIU/mL. The baseline levels of testosterone (T), dihydrotestosterone (DHT), 17-hydroxyprogesterone (17-OHP) and androstendione (A2) were 0.06 ng/mL, 19.67 pg/mL, 1.20 ng/mL, and 0.07 ng/mL respectively. Those levels were 3.65 ng/mL, 68.25 pg/mL, 51.72 ng/mL, and 14.70 ng/mL respectively after Human chorionic gonadotropin (HCG) stimulation. The levels of her anti-mullerian hormone (AMH) was 22.97 ng/mL, and inhibin B (INH-B) was 274.4 pg/mL. The uterus and ovaries were not detected by Pelvic ultrasound and MRI. The chromosome showed 46, XY. Sex determination (SRY) gene detection showed normal. Androgen receptor (AR) gene detection showed negative. There was pathogenic mutation of 5α-reductase 2 (SRD5A2) gene in peripheral blood of the child and her parents. The penis grows 2 cm after 4 months of treatment with 2.5% DHT gel. Conclusion SRD5A2 is diagnosed mainly based on the increase of T/DHT after HCG stimulation experiment and it can be confirmed by detection of pathogenic SRD5A2 mutation.
