ESPE Abstracts

Background: We previously reported the first human mutation in mini-chromosome maintenance homologue 4 (MCM4) in a cohort of patients with adrenal failure, immunodeficiency and chromosomal fragility.Objective and Hypotheses: To report the full endocrine phenotype of 14 patients with MCM4 mutations.Method: Patients case notes were examined and investigations performed to fully assess adrenal function, pubertal development, gonadal f...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...