Endocrine Abstracts

The insulin stress test (IST) continues to be considered a potent test for assessing ACTH and GH reserve. The test has been shown to be safe when performed in an experienced unit. Many endocrine nurse specialists independently perform IST's using appropriate protocols. We audited all consecutive IST's performed by an individual endocrine specialist nurse in our unit. IST was not performed if patients had a history of seizure, ischaemic heart disease or were > 60 yrs. All pa...

Although treatment of osteomalacia is cheap and effective, there are few data on the long-term outcomes. Studies suggest that a minority of patients fail to normalise parathyroid hormone (PTH), due to autonomous parathyroid activity and primary hyperparathyroidism is sometimes 'unmasked' during therapy. This study examined the impact of a recommended oral regimen of calcium 1000 milligrams and vitamin D3 800 international units (20 micrograms) daily, on PTH levels. ...

A 41 year old woman presented with a 4 month history of oropharyngeal spasms precipitated by eating, yawning or talking. Such manouvres caused her to fear for her life due to profound choking and 'going blue';as a result she had stopped eating. On direct questioning she complained of circumoral tingling, paraesthesia and carpopedal spasm. She described profuse diarrhoea over the preceding year and had lost 15 kilograms. She was taking no drugs to interfere ith calcium homeosta...

Introduction:The genetics of most cases of familial phaechromocytomas is unknown.Up to 50%of paragangliomas arefamilial and increased susceptibility is seen in SDHD and SDHC mutations.We report a family with a mutation in the SDHB gene .Case report: The index case, a 22 year old male was treated at the age of 10 years with extra adrenal phaeochromocytoma. Recently, he was found to have ...

Background: Many premature infants experience significant early growth failure in the weeks following delivery. Subsequent catch-up growth has traditionally been assumed to have occurred by early childhood. Most studies have focused on cohorts defined by birth weight, for example, <1500 g resulting in disproportionate numbers of small for gestational age (SGA) infants as opposed to those small solely as a consequence of prematurity. Few studies have examined growth compare...

Background: Euthyroid hyperthyroxinaemia can present a diagnostic challenge. Abnormalities in the binding proteins of thyroid hormones can cause this discordant picture of thyroid function tests, with thyroxine binding globulin being the protein most commonly affected. Familial dysalbuminaemic hyperthyroxinaemia is a rarer cause, and is an autosomal dominant condition which can present with euthyroid hyperthyroxinaemia. This condition is associated with a mutation in albumin w...

Background: Iodine deficiency is a well known cause of goitre and abnormal thyroid function but is rare in patients born in the UK. Iodine is primarily found in fish and dairy products and patients who avoid these foods may be at risk of iodine deficiency.Case: A 22 year old gentleman was referred to endocrine clinic with an unusual pattern of thyroid function tests (TFTs). He had a goitre on examination. He had a background of irritable bowel syndrome a...

Introduction: Due to improved cancer survival rates, a rising number of CNS cancer survivors face late effects of therapy, such as hormone deficiencies. During adolesecence and young adulthood, specialised transition services are needed to cater for young peoples complex health needs and general needs, such as achieving independence. This study therefore audited a Teenage & Young Adult (TYA) neuro-oncology late effects clinic to identify areas of good practice and areas fo...

Limited survival of patients with adrenocortical carcinoma (ACC) makes it imperative to understand the genetic basis of disease and support development of new therapies.Between 2010–2015, tissues from nine adrenalectomy patients (5M:4F, age 30–68 years) were snap frozen in liquid nitrogen and DNA extracted. Adjacent normal adrenal tissue (n=3) excised at adrenalectomy was collected as matched ‘normal’ controls. Whole-exome se...

Introduction: Individuals with cystic fibrosis (CF) frequently exhibit altered insulin and glucose metabolism and many develop cystic fibrosis related diabetes (CFRD). Lung function is influenced by glucose metabolism with changes in glucose metabolism resulting in deterioration in lung function. Recommendations suggest CF patients should have an OGTT annually to screen for the development of CFRD. We examined the OGTT profiles to ascertain whether simpler fasting measures of ...