Endocrine Abstracts

Introduction and Case report: Congenital adrenal hyperplasia (CAH) is a heterogenous group of conditions resulting from inborn errors of steroidogenesis, of which over 95% are due to 21-hydroxylase deficiency.We present a 15-year-old Nepalese female, who was referred to the endocrine clinic for management of CAH. This diagnosis had been at 11 months of age, whilst resident in Hong Kong, when she presented acutely with vomiting and seizures. She had since...

Introduction: Adrenal insufficiency is rare in the neonatal period and if unrecognised may cause life-threatening circulatory collapse. The initial investigations taken at the time of presentation, and prior to the institution of hydrocortisone, are a key step in the diagnostic pathway, and aid the clinician to distinguish adrenal insufficiency from mineralocorticoid resistance or renal tubulopathy. A cortisol measurement at the time of illness is useful to evaluate the adrena...