Endocrine Abstracts

Introduction: Persistent endogenous hyperinsulinemic hypoglycemia in neonates (congenital hyperinsulinism; CHI) is usually due to monogenetic gene variants affecting the insulin secretion. The genetic cause is known in about 50% of patients. We present a new variant within the short-chain L-3-hydroxyacyl-CoA dehydrogenase (HADH) gene causing CHI in two cousins.Methods: The cases of two patients with CHI are presented with a follow-up of >30 ...

Background: The management of craniopharyngiomas remains controversial.Objective: This study sought to examine temporal trends in the management of craniopharyngioma and their impact on long-term patient outcomes, with focus on endocrine consequences.Methods: This was a cross sectional, multicentre study. Patients treated between 1951 and 2015 were identified and divided into four quartiles based on the date of initial surgery. Pat...

Pituitary neuroendocrine tumours (PitNETs) are heterogeneous and have limited biomarkers to predict their behaviour, thus making their prognostication difficult. Ki-67 is a protein expressed in active phases of the cell cycle and is one of the biomarkers utilized in routine assessment of PitNET tissue. Current European Society of Endocrinology recommendations advise that histopathological analysis of PitNETs should as a minimum include Ki-67 proliferation index and anterior pi...

Introduction: Pheochromocytoma and most abdominal paraganglioma (PPGL) can secrete catecholamines. In vitro and in vivo, catecholamines modulate bone remodeling by stimulating bone resorption. In patients with PPGL, four studies have previously demonstrated an increase of biological markers of bone resorption, a decreased of bone density and a higher prevalence of vertebral fractures. We report two patients with malignant abdominal secreting paraganglioma pre...

Introduction: The insulin tolerance test (ITT) is the gold standard method to assess GH and/or ACTH deficiency. Safety concerns with the use of this test were raised more than 20 years ago from overtreatment of hypoglycaemia and consequent cerebral oedema, resulting in some centres using alternative tests. We have re-appraised use of the ITT in a contemporary setting and evaluated: i) timing of the glucose nadir, ii) time to resolution of hypoglycaemia, iii) adverse events and...

Autoimmune Addison’s disease (AAD) results from the immune mediated selective destruction of adrenal steroid hormone-secreting cells. Autoantibodies (Abs) against 21-hydroxylase (21OH) are diagnostic present in 85–90% newly diagnosed patients. Its genetic susceptibility is conferred by human leukocyte antigen (HLA) DQ2 and DQ8. In many patients autoimmunity extends forming the autoimmune polyglandular syndrome type 2 (APS-2). The aim of this study was to test, whethe...

Objective: Primary aldosteronism (PA) is associated with vascular end organ damage. We evaluated the newly established German Conn’s Register for evidence of renal impairment and compared the data with renal function from hypertensive subjects from an epidemiologic cohort.Methods: The registry was founded in 2006 and has at present 7 participating centres in 5 locations. Data are entered in a central electronic database. Up to July 2007 555 patients...

In Northern Ireland, the sole tertiary referral centre for pituitary disease which includes neurosurgery and endocrinology for ~1.9 million people, is based in the Royal Victoria Hospital, Belfast. A retrospective study has been commenced to examine clinical, biochemical, histopathological and radiological data for all patients operated on across an approximately 20 year period in Northern Ireland. Ethical approval was obtained from the Northern Ireland Biobank (study num...

Objective: Patients with adrenal insufficiency (AI) have been found to have increased cardiovascular morbidity, partly associated with nonphysiologic glucocorticoid replacement.Design: We included two separate cohorts (cohort 1 and 2) of patients with chronic primary and secondary AI under standard replacement therapy and compared them to two age- and sex-matched population-based studies (SHIP-TREND/DEGS). Patient cohort 1 comprised 389 individuals asses...

Background: Peptide receptor radionuclide therapy (PRRT) is a form of targeted systemic radiopharmaceutical therapy that has been approved for treatment of somatostatin receptor-positive gastroenteropancreatic neuroendocrine tumors. Persistent hematologic dysfunction is a recognized potential long-term toxicity after PRRT, including the development of hematologic malignancies and persistent cytopenias. Therapy-related myeloid neoplasms (t-MN) are a well-recognized entity that ...