Lipoid Adrenal Hyperplasia (STAR)
Lipoid adrenal hyperplasia is an autosomal recessive disorder caused by pathogenic variants in the STAR gene, which has the highest prevalence in individuals with Ashkenazi Jewish ancestry. All patients with this condition develop as females regardless of their gonadal or genetic sex. Patients will typically be healthy at birth but quickly develop a salt-loss syndrome which is fatal if not treated with hormone replacement therapy. Most patients die in childhood or infancy, but there are reports of some patients surviving to adulthood with proper treatment. There have been no reported genotype-phenotype correlations.
For information about carrier frequency and residual risk, please see the residual risk table.