Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.

ABSTRACT:

Purpose

DAX-1 (NR0B1) is an orphan nuclear receptor, which plays a critical role in development and regulation of the adrenal gland and hypothalamo-pituitary-gonadal axis. Mutations in NR0B1 lead to adrenal hypoplasia congenita (AHC), hypogonadotropic hypogonadism (HH) and azoospermia in men. Presentation is typically with adrenal insufficiency (AI) during infancy or childhood. To date only eight cases/kindreds are reported to have presented in adulthood.

Methods

We describe two new cases of men with DAX-1 mutations who presented in adulthood and who were diagnosed at a large University Hospital.

Results

Case 1 presented with AI at 19 years. At 38 years he was diagnosed with HH. Detailed history revealed a brother diagnosed with AI at a similar age. Sequencing of the

SUBMITTER: Kyriakakis N 

PROVIDER: S-EPMC5606946 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature