Endocrine Abstracts

We report a non-obese 14-year old white female who initially presented to the paediatric endocrine service aged 7 years with adrenarche. She was born small for gestational age (2nd centile) but was otherwise developmentally normal with no significant past medical history. There was maternal history of polycystic ovarian syndrome (PCOS) but no family history of type 2 diabetes (T2DM). A GnRH test showed a pre-pubertal response and she was discharged after 1 year of follow-up wi...

In severe CHI which is unresponsive to medical therapy, pancreatic resection is undertaken to prevent further hypoglycaemia from dysregulated beta-cell insulin secretion. Traditionally, 95% subtotal pancreatectomy has been the surgery of choice (Lovvorn et al. 1999), with associated risks of post-operative complications such as lifelong diabetes and malabsorption. Since the introduction of 18F-DOPA PET-CT imaging, clinicians have been able to effectively differentia...

CHI is a disorder of dysregulated insulin release characterised by severe recurrent hypoglycaemia. Mutations in genes encoding the beta-cell sulphonylurea receptor (ABCC8) and inward-rectifying potassium-channel (KCNJ11) are the commonest genetic cause of CHI, followed by that encoding glutamate dehydrogenase (GLUD-1). Histologically, disease pathology is subdivided into diffuse or focal disease; the latter associated with paternal mutations and somatic lo...

Background and aims: Most children with permanent neonatal diabetes (PNDM) have heterozygous mutations in KCNJ11, ABCC8 or INS genes if they have unrelated parents. Although homozygous mutations in GCK and ABCC8 have been described in the offspring of consanguineous parents the genetic aetiology in most of these cases remains unknown. We hypothesised that homozygous mutations in the INS gene could cause PNDM in these patients.<p class="ab...