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  

One case of late-onset adrenal hypoplasia congenita caused by a novel mutation of DAX-1 gene

作　　者：王丹萍[1] 陈存仁[2] 刘艳霞[1] 汪丽娟[1] 粟夏连[1] 

机构地区：[1]郑州大学第一附属医院内分泌科,450052 [2]海南省人民医院内分泌科

出　　处：《中华内分泌代谢杂志》2011年第1期47-49,共3页Chinese Journal of Endocrinology and Metabolism

摘　　要：本研究发现1例先天性肾上腺发育不良症和低促性腺激素性性腺功能减退症患者DAX-1基因第一外显子处993delC新型移码突变,导致终止密码子提前59个氨基酸出现,其母亲、大姐及二姐均为杂合突变,父亲及哥哥为正常野生型.患者糖皮质激素替代治疗后,症状改善,但ACTH未被抑制.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.

关 键 词：肾上腺发育不全 低促性腺激素性性腺功能减退症 DAX-1 

分 类 号：R586[医药卫生—内分泌]