One case of late-onset adrenal hypoplasia congenita caused by a novel mutation of DAX-1 gene
10.3760/cma.j.issn.1000-6699.2011.01.014
- VernacularTitle:DAX-1基因新的移码突变导致一例迟发型先天性肾上腺发育不良症
- Author:
Danping WANG
;
Cunren CHEN
;
Yanxia LIU
;
Lijuan WANG
;
Xialian LI
- Publication Type:Journal Article
- Keywords:
Adrenal hypoplasia congenita;
Hypergonadotropic hypogonadism;
DAX-1
- From:Chinese Journal of Endocrinology and Metabolism
2011;27(1):47-49
- CountryChina
- Language:Chinese
-
Abstract:
A novel hemizygous frameshift mutation in exon1of DAX-1 gene (993delC) was found in a patient with late-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism.This mutation led the stop codon to appear in advance of 59 amino acids.His mother and two sisters were the carriers of this hemizygous mutation while his father and brother were wild-type.After glucocorticoid hormone replacement therapy, the clinical symptom was improved, but the level of ACTH was not suppressed.
