Clinical characteristics and genetic analysis in two patients with 3β-hydroxysteroid dehydrogenase deficiency
10.3760/cma.j.issn.1000-6699.2016.02.003
- VernacularTitle:2例3β-羟类固醇脱氢酶缺陷症的临床特点及分子遗传学研究
- Author:
Yanling LIU
;
Shouyue SUN
;
Xueyan QIN
;
Lei YE
;
Yu ZHAO
;
Defen WANG
;
Wei WANG
;
Xiaoying LI
- Publication Type:Journal Article
- Keywords:
3β-hydroxysteroid dehydrogenase deficiency;
Congenital adrenal hyperplasia;
Male pseudohermaphroditism;
HSD3B2 gene
- From:
Chinese Journal of Endocrinology and Metabolism
2016;(2):98-102
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the clinical characteristics of two patients with 3β-hydroxysteroid dehydrogenase deficiency and to explore their molecular genetic defects.Methods The clinical features and laboratory data of two patients were collected.The exons of HSD3B2 gene were amplified by PCR and sequenced by Sanger sequencing.Results Patient 1, aged 5 yrs old, was raised as a girl with 46, XY karyotype, presented with hyperpigmentation, female infant vulva, clitoral hypertrophy, and bilateral cryptorchidism;Patient 2, aged 11 yrs old, was raised as a girl at birth but as a boy after 1 yr old for known 46, XY karyotype, presented with hyperpigmentation, micropenis and severe hypospadias.Both patients had markedly elevated adrenocorticotropin and decreased cortisol.Two homozygous missense mutations in HSD3B2 gene were identified:conversions of codon Pro155 toLeu(p.P155L)inpatient1,andcodonAla82toThr(p.A82T)inpatient2,bothofwhichwerereportedforthe first time in China.Conclusion The patients with 3β-hydroxysteroid dehydrogenase deficiency in 46,XY karyotype mainly present with male pseudohermaphroditism and adrenocortical deficiency, and the diagnosis should rely on the steroids detection and HSD3B2 gene screening.
