Endocrine Abstracts

Background: Congenital hypothyroidism (CHT) may be viewed as a relatively easy condition to diagnose and treat. However, for the parents who are contacted with the neonatal screening results the news can be devastating. The quality of information provided at diagnosis is variable, and there are few support groups they can turn to. Many seek information online before meeting a paediatrician.Methods: The British Thyroid Foundation in conjunction with our r...

Introduction: Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive glucocorticoid replacement therapy, which might cause osteoporosis.Objective: i) Is bone mineral density (BMD) depending on the height of the daily glucocorticoid dose? ii) Is BMD decreasing over a 2-year period of glucocorticoid replacement therapy?Methods: Prospective, longitudinal study including 56 pati...

Background: Surgery has a significant role in the management of benign thyroid disease, necessitating pre-operative evaluation and appreciation of possible complications. These include hypoparathyroidism and hypothyroidism. We compared outcomes of our benign thyroid disease patients requiring surgery to national standards set by the British Thyroid Association.Method: Outcomes for patients operated between December 2010 and December 2012 with benign dise...

Objective: Postsurgical hypoparathyroidism (HypoPT) is the most common etiology of disease and often occurs after thyroid surgery. However, the differential diagnosis between different forms of HypoPT in some cases remains a challenge. We present the clinical case of postsurgical and functional HypoPT combination.Case description: A 44-year-old female was referred to the Endocrinology Research Centre. She underwent total thyroidectomy for follicular aden...

Graves’ orbitopathy, is a rare and potentially sight-threatening ocular disease that sometimes occurs in patients with euthyroid or hypothyroid chronic autoimmune thyroiditis. We relate a case of a man with 53 years that have diabetes and hipertension and regular clinical exams with endocrinologist and oftalmologist. He developed a bilateral exoftalmia, larger at right eye, in 3 months of follow up, without another signs of thyrotoxicosis. After 2 years of follow up, the...

Introduction: X-linked hypo-phosphataemic rickets is characterized by hypophosphataemia, vitamin D deficiency, poor bone and dental mineralization. Mutations occur within the PHEX gene. Currently 329 mutations have been sequenced1. We report a novel PHEX mutation in a female with hypophosphataemic rickets.Case report: A 12-year-old girl presented with, genu varum, short stature and a previous dental abscess. Investigatons showed hypophosphatae...

Recombinant growth hormone (GH) administration uses several different injection devices. Despite offering free patient choice at GH therapy start, ~20% of our patients subsequently change GH device.Objective: To investigate reasons for GH device change, and evaluate the effect on adherence, height velocity standard deviation (HVSDS), and insulin-like growth factor-1 (IGF1).Method: Retrospective study of extracted growth data and la...

Introduction: The aim of study was to perform a comprehensive structural and functional assessment of thyroid gland in men with metabolic syndrome (MS).Methods: Main group (MG) of 116 men aged 35–60 years with MS (by International Diabetes Federation definition) and 34 healthy controls of the same age profile underwent a comprehensive examination of thyroid gland which included physical assessment, full serum thyroid hormonal profile – total an...

Hypoglycaemia in non-diabetic patients has a multitude of causes from exogenous insulin to paraneoplastic syndromes. We explore the importance of obtaining a ‘golden sample’, a serum blood sample, during the episode of hypoglycaemia, prior to reversal with treatment. The case herein describes a patient with recurrent episodes of unexplained hypoglycaemia which precipitated several hospital admissions. Standard screening tests did not detect any obvious cause for his ...

Objective: To conduct a systematic review and meta-analysis of observational, cross sectional and longitudinal studies of sleep apnoea syndrome in acromegalic subjects to determine a) prevalence b) effect of treatment and c) relationship to GH and/or IGF-1.Method: A PubMed search using ‘(acromegaly) AND (sleep apnoea)’ as search terms was performed with subsequent hand searching of relevant papers. Cross sectional and longitudinal studies were ...