Endocrine Abstracts

Background: Craniopharyngioma is a benign tumour involving the hypothalamic and pituitary regions that are involved in the production and secretion of oxytocin. Research has shown that dysfunction of the oxytocin system is associated with neurobehavioural and metabolic outcomes, but less is known for its role in patients with craniopharyngioma, largely due to varied study designs and heterogenous methods of assessing the oxytocin system. This systematic review...

Approximately 15-20% of phaeochromocytomas and paragangliomas (PPGL) are metastatic. Metastatic spinal cord compression (MSCC) has been reported infrequently. We present three cases of MSCC secondary to metastatic PPGLs. MSCC can occur in patients with PPGLs and should be considered in patients with either spinal symptoms or spinal metastases on imaging. Our series has shown radiotherapy followed by therapeutic MIBG to be effective in treating spinal metastases. Each case shou...

We present the case of a 53-year-old lady who was recently diagnosed with Type 2 Diabetes, Hypertension and Dyslipidaemia. She was referred by the lipid clinic with a 3-month history of progressive facial swelling, hyperpigmentation and proximal myopathy. Clinical history and examination were highly suspicious of endogenous hypercortisolaemia. An initial overnight dexamethasone suppression test yielded an elevated morning cortisol (752 nmol/l, normal <50nmol/l). Two 24-hou...

Aims: To study changes in bone mineral density (BMD), bone mineral parameters, metabolic profile, body composition and quality of life at base line and 6 months following parathyroidectomy, in subjects with primary hyperparathyroidism (PHPT).Material and methods: This prospective study was conducted over 18 months with first 12 months of recruitment and next 6 months for follow-up. Sixty-eight patients with PHPT who underwent surgery were compared with 1...

Objective: To study the impact of HBV related chronic liver disease (CLD) and its treatment with Tenofovir on bone health in Indian subjects.Methods: This cross-sectional study included men between 18 and 60 years and comprised of three groups: Group 1 was treatment naïve HBV-related CLD (n=79), Group 2 – those with HBV-related CLD on tenofovir for at least 1 year duration (n=136), Group 3 – normal age, sex and BMI-matche...

Background: Children with hyperinsulinaemic hypoglycaemia (HH) are at a high risk of brain injury, while children with ketotic hypoglycaemia (KH) are believed to be neurologically normal, due to the absence and presence respectively of ketone bodies that act as an alternate fuel during hypoglycaemia. Our objective was to ascertain if children with HH sustain greater white matter (WM) injury in comparison to children with KH.Methods: Neurologically normal...

Background: Mutations in the insulin receptor (INSR) gene are rare and cause a spectrum of severe insulin resistance syndromes including Donohue syndrome, Rabson Mendenhall syndrome, and Type A Insulin Resistance Syndrome (IRS). We describe a young female with a heterozygous INSR mutation, who presented with antibody positive diabetes mellitus (DM) and subsequently developed features of Type A IRS.Case Report: A 12 year old Jamaican gir...

Congenital hyperinsulinism (CHI) is a cause of severe and persistent hypoglycaemia due to unregulated insulin secretion from pancreatic β-cells. Mutations in the ABCC8 and KCNJ11 genes are the most common cause of medically unresponsive CHI. Histologically there are three major subgroups, focal, diffuse and atypical. The pathophysiology of focal CHI is complex and involves a two hit process with the patient firstly inheriting a paternal ABCC8/KCNJ11 m...

Background: The pancreatic β-cell KATP channel plays a key role in glucose stimulated insulin secretion and is encoded by the genes ABCC8 and KCNJ11. Recessive mutations in ABCC8/KCNJ11 cause severe medically unresponsive HH. Recently, dominant mutations in these genes have been described that cause mild, medically responsive HH. Controversy exists on whether these dominant ABCC8/KCNJ11 mutations predispose to diabetes mellitus in ad...

Introduction: Pituitary inflammation (Hypophysitis) is rare in paediatric population and usually results in pituitary enlargement and hypopituitarism. Hypophysitis can be either primary (most commonly lymphocytic, granulomatous or xanthomatous disease) or secondary (consequent to systemic diseases, immunotherapy or alternative sella-based pathologies). We describe the clinical presentation and management of apparent primary lymphocytic hypophysitis in an adolescent girl. Case ...