Three cases of congenital adrenal hypoplasia with hypogonadotropic hypogonadism due to novel NR0B1 mutation
10.3760/cma.j.cn311282-20210912-00592
- VernacularTitle:NR0B1基因新突变致三例X连锁先天性肾上腺发育不良报道
- Author:
Jingjing YUAN
1
;
Yujun WANG
;
Wenjun YANG
;
Yanhong XIE
;
Zhaohui MO
;
Ping JIN
Author Information
1. 中南大学湘雅三医院内分泌科，长沙 410007
- Keywords:
Nuclear receptor subfamily 0 group B member1;
DAX1;
Mutation;
X-linked adrenal hypoplasia congenita
- From:
Chinese Journal of Endocrinology and Metabolism
2022;38(7):589-594
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To advance the understanding of X-linked adrenal hypoplasia congenita(XL-AHC)through genetic analysis.Methods:Genomic DNA was extracted from peripheral blood of three patients with XL-AHC and their family members as well. Pathogenic genes were screened with whole exome sequencing followed by Sanger sequencing and pedigree verification.Results:All three probands were diagnosed as primary adrenal insufficiency at early age and developed hypogonadotropic hypogonadism in adolescence. The proband 1 was hemizygous for c. 420delG(p.R141Gfs*123)mutation in exon 1 of NR0B1 gene. His mother was a heterozygous mutation carrier while his brother did not carry the mutation, which was consistent with the X-linked recessive inheritance. A hemizygous mutation c. 212_213delAA(p.K71Rfs*41)of NR0B1 gene was detected in both proband 2 and proband 3. These two novel mutations were not reported in HGMD database.Conclusions:In this study, two novel NR0B1 mutations, c. 420delG and c. 212_213delAA were identified in 3 patients with XL-AHC. For men with early onset of adrenocortical hypofunction, XL-AHC should be considered. Early genetic screening of NR0B1 gene is helpful for early diagnosis.
