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

Nikolaos KyriakakisTolulope ShonibareJulie Kyaw-TunJulie LynchCarlos F LagosJohn C AchermannRobert D Murray

Published in: Pituitary (2018)

We describe two missense mutations within the putative carboxyl-terminal ligand binding domain of DAX-1, presenting with AHC and HH in adulthood, from a single center. DAX-1 mutations may be more frequent in adults than previously recognized. We recommend testing for DAX-1 mutations in all adults with primary AI and HH or impaired fertility where the etiology is unclear.

Keyphrases

late onset
early onset
depressive symptoms
intellectual disability
machine learning
deep learning