Endocrine Abstracts

Background: Low thyroid hormone concentrations in the first few weeks of life in preterm infants may be linked with poor neurodevelopment. We conducted a multi-centred randomised controlled trial of thyroxine (T4) supplementation in babies born under 28-weeks’ gestation (TIPIT study). A post hoc subgroup analysis was undertaken to examine brain growth and development.Methods: Seventy-eight infants received T4 supplementation an...

Introduction. We have reported a family with atypical Laron syndrome with no obvious defect in the growth hormone receptor but with an apparent defect in growth hormone (GH) signaling. We aimed to assess how this signaling defect alters GH-dependent gene expression.Methods. Atypical Laron fibroblasts (Lfib) and normal fibroblasts (Nfib) were exposed to 200ng/ml of recombinant GH for 24 hours. mRNA was extracted and reverse transcribed using...

BACKGROUND: Dopamine agonists are the treatment of choice in macroprolactinomas. A number of these tumours do not respond to the commonly used doses. In such cases the outcome after alternative approaches has not been clarified.AIM: To assess the response of macroprolactinomas to bromocriptine (BRC) or cabergoline (CAB) and the result of further interventions in resistant cases.PATIENTS AND METHODS: All records of the patients pres...

Autoimmune polyendocrinopathy type 1 (APS1) is an autosomal recessive disorder characterised by hypoparathyroidism, adrenocortical failure, and mucocutaneous candidiasis. The gene causing APS1 is the autoimmune regulator (AIRE-1) gene, which maps to 21q22.3 and consists of 14 exons. The AIRE-1 protein, comprising of 545 amino acids, contains two PHD zinc-finger motifs, a proline rich region and four LXXLL motifs, consistent with its role as a transcription factor. Over 25 diff...

Case History: A 69-year-old gentleman was admitted having lost consciousness. This episode was preceded by typical hypoglycaemic symptoms which, in retrospect, he had experienced for four decades with increasing frequency and severity over the past year. He was hypertensive. There was no family history of endocrinopathy or diabetes.Investigations: A supervised inpatient fast was undertaken along with cross-sectional and radio-isotope imaging.<p class...

Introduction: Studies have reported a rising incidence of congenital hypothyroidism (CHT) although the pathophysiology of most cases is unknown. A rising incidence is not simply a reflection of changing assay methodology and environmental factors may have an aetiological role. If so, then cases may exhibit space-time clustering, where cases occur at similar times and close proximities to other cases.Methods: We investigated whether there is evidence of s...

Introduction: Adverse drug reactions (ADRs) are a significant cause of morbidity in childhood. We undertook a prospective study to investigate ADRs causing admission to a UK paediatric hospital: this report focuses on corticosteroids (CS).Methods: Three investigators assessed all acute admissions over a 1 year period and identified ADRs by cross-referencing clinical presentations to known ADR profiles using a standardised causality tool.<p class="abs...

Calcium sensing receptor (CaSR) mutations may result in either hypocalciuric hypercalcaemia or hypocalcaemic hypercalciuria due to a loss or gain of function, respectively. It has also been postulated that some gain of function CaSR mutations may result in idiopathic (i.e. normocalcaemic) hypercalciuria (IH). We reasoned that such CaSR mutations would lead to an early onset of IH and have sought for them in 12 unrelated children who were normocalcaemic and developed IH nephrol...

The calcium sensing receptor (CaSR) plays a central role in altering the secretion of parathyroid hormone (PTH) in response to alterations in extracellular calcium, and four studies have reported an association between CaSR polymorphisms and serum Ca 2+, serum PTH, and bone mineral density (BMD). However, two other studies have failed to detect such associations. We have therefore undertaken studies to investigate the Ala986Ser, Arg990Gly, and Gln1011Glu CaSR polymo...