Department of Pediatric Endocrinology and Metabolism, Ege University, Izmir, Turkey.
Horm Res Paediatr. 2011 Feb;75(2):153-6. doi: 10.1159/000320701. Epub 2010 Oct 22.
BACKGROUND/AIMS: X-linked adrenal hypoplasia congenita (AHC) is typically characterized by a DAX-1 gene mutation and hypogonadotropic hypogonadism. However, rare cases with precocious puberty or normal puberty have been reported. Currently, the mechanism of action of the DAX-1 gene on puberty is not clearly known.
We report a male who was diagnosed as having AHC in the newborn period and detected as having stop codon Q155 X mutation in the DAX-1 gene. This subject developed central precocious puberty when he was 9 months old.
This paper is the first case report of AHC, central precocious puberty and a mutation in the DAX-1 gene. DAX-1 gene mutations can result in various phenotypes.
In cases with AHC, central precocious puberty can develop rather than hypogonadotropic hypogonadism, which is the most frequently observed puberty disorder related to DAX-1 gene mutations.
背景/目的：X 连锁先天性肾上腺发育不良（AHC）的典型特征是 DAX-1 基因突变和促性腺激素低下性性腺功能减退症。然而，也有报道罕见病例表现为性早熟或正常青春期。目前，DAX-1 基因对青春期的作用机制尚不清楚。
我们报告了一名男性，他在新生儿期被诊断为 AHC，并在 DAX-1 基因中检测到 Q155X 终止密码子突变。该患者在 9 个月大时出现中枢性性早熟。
本文是首例 AHC、中枢性性早熟和 DAX-1 基因突变的病例报告。DAX-1 基因突变可导致多种表型。
在 AHC 病例中，可能会出现中枢性性早熟，而不是促性腺激素低下性性腺功能减退症，这是与 DAX-1 基因突变相关的最常见的青春期障碍。
