Endocrine Abstracts

Introduction: Cushing’s disease (CD) is very rare in children and is invariably caused by a corticotroph adenoma. However, corticotroph cell hyperplasia has only been convincingly shown in two previous cases of paediatric Cushing’s disease. We report the case of a 7-year-old boy with Cushing’s disease caused by coticotroph cell hyperplasia.Case report: Our patient presented with a 10-month history of obesity, hirsutism and growth retardati...

Background: We recently reported the first human mutation in mini-chromosome maintenance homologue 4 (MCM4) in a cohort of patients with adrenal failure. We now report the endocrine phenotype of 14 patients with MCM4 mutations.Methods: Patients case notes were examined and investigations performed to fully assess adrenal function, pubertal development, gonadal function and growth.Results: 13 of 14 patients have developed isolated g...

Introduction: De Morsier described an association between optic nerve hypoplasia and an absent septum pellucidum in 1956, termed septo-optic dysplasia. SOD is a common cause of multiple pituitary hormone deficiency in children. Clinical features can evolve. Genetic mutations in regulators of pituitary development have been suggested.Aims: To determine associated endocrinopathies, ophthalmological and radiological findings in an Irish paediatric cohort of...

Introduction: A unique variant of familial glucocorticoid deficiency (FGD) exists in the Irish travelling community, a genetically isolated population with high levels of consanguinity. Affected children develop hypocortisolaemia and raised ACTH but retain normal renin and aldosterone levels. Children also have short stature, evidence of increased chromosomal breakage and natural killer cell deficiency.Methods: We sought areas of homozygosity common to a...