Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.

ABSTRACT:

Context

DAX1 (NR0B1) mutations cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) in affected male patients. Affected individuals typically present with early-onset adrenal insufficiency and develop HH during puberty. Rare cases can present with late-onset adrenal insufficiency or other unusual phenotypes.

Objectives

We sought to identify and functionally characterize DAX1 mutations in seven Thai male subjects in six families with X-linked AHC.

Patients and methods

Six patients had classic phenotypes with early-onset adrenal failure. One patient presented with late-onset Addison disease at 17 years. In the early-onset group, one patient had GnRH-independent sexual precocity at 3 years of age, and another patie

SUBMITTER: Suthiworachai C 

PROVIDER: S-EPMC6316980 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature