Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition with significant consequences if not correctly diagnosed and treated. We have reviewed the patients with CAH presenting in Northern Ireland between 1976 and 2010.Aims: To determine the age, sex and clinical features at presentation; treatment modalities including perineal surgery in childhood; and long-term outcomes including final height and surgery in adulthood.<p ...

Triple A syndrome (also known as Allgrove’s syndrome, MIM #231550) is a rare autosomal recessive disorder characterised by ACTH-resistant adrenal insufficiency, alacrima and achalasia. Neurological features may also be present. Various combinations of these features may be present which evolve over time. Triple A syndrome is caused by mutations in the AAAS gene which encodes for the protein ALADIN, a member of the nuclear pore complex, whose function is incompletely under...

Introduction: Timing, extent, complications rate and long term results of paediatric prophylactic thyroidectomy (pPT) for MEN2 in the UK are unknown.Methods: All UK centers performing pPT were invited to participate in the study.Data were obtained from notes and hospitals electronic databases.Results: Fifty-one children (27 males) were included.All had genetic test at the mean age of 5 years (median 3, range 0.25–15), confirmi...