Endocrine Abstracts

Background: A basic tenet for hormone replacement is to replicate physiology but this is rarely if ever achieved. The adrenal glucocorticoid, cortisol, has a distinct circadian rhythm regulated by the brain’s central pacemaker. Loss of the cortisol circadian rhythm is associated with metabolic abnormalities, depression, fatigue and a poor health-related quality of life. Based on pharmacokinetic modelling we have developed a modified-release hydrocortisone (MR-HC) and test...

Introduction: We have generated a truncated Growth Hormone Receptor (GHR) fused to the cell membrane by a glycosyl phosphatidylinositol anchor (GHR-GPI). The protein consists of the complete extracellular domain of the GHR, but lacks the intracellular domain, and we predict it would act as a GH antagonist. Aim: To test if partially-purified soluble GHR-GPI could re-insert into CHO cell membranes. Material and methods: Membrane preparations were made from CHO cells stably expre...

AIM: To assess efficacy of GH replacement and safety of stopping treatment in patients aged over 60 years.METHODS: GH-deficient patients were started on GH 0.13 miligram per day and the dose titrated over 4 months to a serum IGF-1 in the upper half of the age-related normal range. After 4 months titration, patients were randomised to either continuing GH or placebo in a double-blind, cross-over study with 2 x 4 month periods of either GH or placebo treatment.RESULTS: 1...

Background: Addison’s disease is probably under-diagnosed in South Africa, given that the prevalence is considerably lower than reported in Western countries (Chabre O 2017); this is important as patients may be dying from a highly treatable condition. In addition, large populations of HIV and tuberculosis infected patients in South Africa may have some symptoms erroneously attributed to these conditions, rather than Addison’s disease. We determined the prevalence an...

Introduction: Congenital Hyperinsulinism (CHI) is a heterogeneous condition caused by dysregulation of insulin secretion. Paternally inherited mutations in ABCC8 or KCNJ11 are associated with loss of the maternal 11p15 allele in focal CHI (CHI-F). CHI-F can be curative after selective lesionectomy. However, histological heterogeneity within the CHI-F lesions has not been previously reported. We aimed to examine the diversity in focal lesions and correlate wit...

Context11-oxygenated C19 steroids have recently gained attention as markers of androgen control in congenital adrenal hyperplasia (CAH) due to 21hydroxylase deficiency (21OHD). However, they have not yet been systematically investigated in the context of different glucocorticoid (GC) replacement regimens and in particular not in patients receiving new modified-release formulations.MethodsCross-sectional singl...

BackgroundStandard glucocorticoid (GC) therapy in classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD-CAH) is often inadequate in controlling adrenal androgen excess, leading to GC over-exposure and poor health outcomes. A novel modified-release formulation of hydrocortisone (MR-HC, Chronocort® Diurnal Ltd. UK) has been shown to improve circulating adrenal androgen excess in 21-OHD-CAH. We investigated whether saliva and ...

Adrenal crisis (AC) is a life-threatening episode of adrenal insufficiency (AI) resulting from impairment of glucocorticoid secretion by the adrenal cortex. Approximately 1 in 200 patients die from AC annually.1 AC is often precipitated by intercurrent illness, injury or surgery and can be prevented by increasing oral corticosteroid doses (‘stress dosing’) during illness. Parenteral hydrocortisone may be necessary if oral therapy cannot be absorbed or inef...

Background: Patients with Multiple Endocrine Neoplasia type 2 (MEN2) without previous family history often present late with advanced Medullary Thyroid Cancer (MTC). Surgery is not always curative but RET tyrosine kinase pathway is a potential target for molecular treatment for progressive MTC.Methods: Retrospective review of clinical, genetic, biochemical (calcitonin, CEA) and imaging (US, CT/MRI, Gallium Dotate) data of children with MEN2 who developed...

Introduction: First-line treatment for congenital adrenal hyperplasia (CAH) is hydrocortisone1. When adequate control is not achieved, prednisolone (or its prodrug prednisone) are often used. However, there has been no formal comparison of disease control in CAH comparing prednis(ol)one vs hydrocortisone and patients are often on a glucocorticoid dose that exceeds the guideline recommended dose of hydrocortisone (≤25 mg/day)1,2. We report an interim...