Clinical and epigenetic study of a case with adrenal hypoplasia congenita caused by a novel DAX-1 gene mutation
10.3760/cma.j.issn.1000-6699.2009.01.018
- VernacularTitle:新的DAX-1基因突变致先天性肾上腺发育不全一例的临床及表观遗传学研究
- Author:
Yuping GONG
;
Guang XING
;
Baoan WANG
;
Lijuan YANG
;
Jingtao DOU
;
Yiming MU
;
Juming LU
;
Changyu PAN
- Publication Type:Journal Article
- Keywords:
Adrenal hypoplasia congenita;
DAX-1 gene
- From:
Chinese Journal of Endocrinology and Metabolism
2009;25(1):62-63
- CountryChina
- Language:Chinese
-
Abstract:
Hormones and epigenetic characteristics in a patient with clinically diagnosed adrenal hypoplasia congenita (AHC) were analyzed. Results indicated that plasma ACTH increased, while cortisol, testosterone, LH and FSH decreased. LH, FSH and testosterone did not sufficiently respond to GnRH or hCG stimulation. Gene analysis indicated that C368F mutation was located in exon 1 of DAX-1 gene.
