Endocrine Abstracts

Aim: The insulin tolerance test (ITT) is considered the gold standard test in assessing the integrity of the hypothalamic–pituitary–adrenal (HPA) axis. The aim of this study is to evaluate if the 0900 h cortisol levels can be predictive of the patient’s response to hypoglycaemia, minimizing the use of the ITT as it is labour, intensive and unpleasant for the patient.Methods: This is a retrospective study of 110 ITTs performed at the Endocr...

Background: Hyperthyroidism affects 1.3% of the population. The antithyroid drugs (ATD), carbimazole and propylthiouracil, can induce agranulocytosis, a rare but potentially life threatening side-effect with a prevalence of 0.10–0.15%. We assessed the adequacy of our patient’s knowledge of this side-effect.Methods: Patients on ATD completed a questionnaire before attending clinic. The questionnaire consisted of nine questions detailing informat...

Introduction: Generalised arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, associated with high mortality rate, due to inactivating mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene that results in arterial stenosis secondary to unregulated hydroxyapatite deposition.Case report: A female baby was born at 34+5 weeks to consanguineous parents with a birth weight of 3.97 kg. Baby was born in ...

Ectopic ACTH secretion accounts for 11–25% of Cushing’s syndrome, most commonly resulting from small cell lung carcinoma and bronchial carcinoid tumours. Ectopic ACTH requires meticulous consideration in the differential of ACTH-dependent Cushing’s syndrome. Thymic carcinoids are a very rare cause of ectopic ACTH secretion, accounting for 5–12% of cases. A 28 year old gentleman was diagnosed with Cushing’s syndrome after presenting with lethargy, hyper...

Background: Infants born small for gestational age (SGA) usually show catch-up growth during the first few years of post-natal life. However, some infants remain small and little is known about the factors governing their growth failure. GH and IGF1 receptor mutations only account for a minority of cases. We have now initiated an in vitro assessment of signalling molecules downstream of these receptors and evaluation of cell growth characteristics.<p class="abstext"...

Background: Infants born small for gestational age (SGA) usually show catch up growth within the first few years of life. However in the UK ~1500 SGA children each year remain small, with no clear endocrine cause with rare genetic syndromes accounting for only a minority of cases. In order to define growth factor activation in these children we have initiated an assessment of cell growth and signalling in response to GH and IGF1 in fibroblast cell lines....

Considerable dichotomy exists in the phenotype of adults with severe GHD of childhood (CO-GHD) and adult-onset (AO-GHD). Those with CO-GHD show immaturity. Adults with partial GHD (GH insufficiency (GHI), peak GH 3.1–7.0 μg/l) show a similar, but milder phenotype to adults with severe GHD. Whether a similar dichotomy relating to timing of onset is observed in CO-GHI and AO-GHI adults is not known.We studied 24 adults with GHI (CO-GHI n=1...

MC3-R expressed in the brain are well characterized however the role of MC3-R in the periphery is unclear. Recently, we described immunopositive staining for MC3-R in the testes of wild-type mice and reported that the testicular histology of the MC3-R null mouse was abnormal. The aims of this further work were to confirm that MC3-R is expressed in testes and determine if ACTH1–39 affects testicular steroidogenesis in vitro.RNA and ...

Introduction: Pituitary conditions are rare and diagnosis may be slow because symptoms are ambiguous. The treatment may be a combination of surgery, radiotherapy and medication so patients see many healthcare professionals (HCPs). This survey sought to assess patient satisfaction with the information and support they receive from GPs, endocrinologists, neurosurgeons, radiotherapists, specialist nurses, and other agencies (e.g. the pituitary foundation).M...

Background: Infants born small for gestational age (SGA) usually show catch-up growth during the first few years of post-natal life. However, some infants remain small and little is known about the factors governing their growth failure. IGF-I receptor mutations account for a minority of cases therefore we have initiated an assessment of signalling molecules downstream of the receptor.Method: Skin biopsies were obtained with local ethics approval from he...