Autoimmune diseases arise from a breakdown in immune tolerance to self. While the majority have mixed aetiology, with genetic and environmental factors implicated, a monogenic cause (that is, pathogenic genetic variants in AIRE), cause multiple early-onset, organ-specific autoimmune conditions.

Congenital adrenal hyperplasia is an inherited condition where the adrenal gland is larger than usual. Over 90% of cases are caused by a pathogenic variant in the CYP21A2 gene.

Differences in sex development are a group of rare conditions where chromosomal, gonadal or anatomic sex is atypical.

Monogenic diabetes is a genetic condition caused by a pathogenic variant in the DNA sequence of one from a number of genes.

Most cases of short stature are multifactorial in origin, but a minority will be caused by specific genetic conditions.

Combined pituitary hormone deficiency is a genetic condition that leads to a deficiency in more than one hormone produced by the anterior pituitary gland.