Endocrine Abstracts

Case history: We present the case of a 64 year old gentleman diagnosed with hypoparathyroidism following presentation with acute hypocalcemia post thoracic aneurysm surgery for aortic dissection. The etiology was felt to be a complication of thoracic surgery with possible disruption of blood supply to the parathyroid glands.Deeper investigation at a subsequent review revealed persistent hypocalcaemia predating surgery by over 10 years. This was on the ba...

The incretin hormone glucagon-like peptide-1 (GLP-1) has been proposed to increase beta cell mass, via effects on proliferation, apoptosis and neogenesis. However, the role of GLP-1 during normal human development is unclear. We have addressed this in human fetuses by quantifying GLP-1 secretion during fetal development and determining how GLP-1 signalling impacts on early human fetal pancreas in explant culture.GLP-1 is first secreted by the stomach, du...

Background: OPKO Biologics is a clinical-stage public company developing long-acting therapeutic proteins utilizing CTP technology. The technology involves fusion of the C-terminal peptide of human chorionic gonadotropin (hCG), which is highly O-glycosylated, to the target protein. CTP enabled the production of a long-acting human growth hormone (hGH) (MOD-4023), which supports a single weekly injection in growth hormone-deficient patients. MOD-4023 is manufactured as a non-vi...

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

Introduction: Adolescents with persistent gender dysphoria (GD) receive GnRH analogues to achieve pubertal arrest. It is unclear whether this is adequate to achieve biochemical suppression of gonadotrophin (LH, FSH) and sex hormone production.Methods: Gonadotrophins, testosterone and oestradiol were measured in GD patients (15–18 years) before and after monthly Gonapeptyl treatment (3.75 mg i.m.). Patients administered other analogues and/or cross-s...

Since the introduction of the reduction in hours for junior doctors in 1991, nurse led clinics (NLC) have increasingly become embedded into specialist practice. Whilst some NLC such as Diabetes and Respiratory have been established for many years, in the area of Endocrinology they are a newer evolving concept.Currently there is limited research in this area. An online survey was distributed to 98 nurse members of the Society for Endocrinology. The questi...

Pancreatic islets are susceptible to hypoxia during isolation, culture, and transplantation. An intervention that protects against hypoxia while preserving β-cell function will improve islet quality. Adrenaline suppresses insulin secretion and oxygen consumption in pancreatic islets. These findings suggest that adrenergic action creates metabolic quiescence in β-cells. Our objective was to determine whether adrenaline is protective during hypoxic culture in an insuli...

Introduction: A breech presentation occurs in 3–5% of all full-term pregnancies and is associated with increased risk of maternal and foetal morbidity. Factors known to increase the risk of breech presentation include prematurity, low birth weight and multiple pregnancies. Recent studies suggest maternal thyroid hormone deficiency in late pregnancy may also be a risk factor. Our study aims to assess if a breech presentation at 36 weeks gestation in a healthy singleton coh...

Introduction: Some patients complain of excessive daytime somnolence following pituitary surgery.Aim: To investigate the presence of obstructive sleep apnoea (OSA) following surgery for non functioning pituitary adenomas (NFPA).Design and methods: We assessed the prevalence of OSA in 16 routinely selected patients following surgery for NFPA and 13 obese controls attending a tertiary referral centre, by means of the Epworth Sleepine...

Introduction: Multiple endocrine neoplasia type 2 (MEN2) comprise a group of heritable disorders that result from mutations in the RET proto-oncogene on chromosome 10. MEN2 is sub classified into MEN2A and MEN2B; these syndromes are characterised by the development of tumours at multiple sites. MEN2A is characterised by medullary thyroid cancer, phaeochromocytoma, and primary parathyroid hyperplasia.Description/case presentation: The index case is a 49 y...