Endocrine Abstracts

Ghrelin, a novel GH-releasing n-octanoylated peptide, has been identified as an endogenous ligand for the 'orphan' GH secretagogue receptor. When administered iv or icv, Ghrelin causes a greater increase in serum GH concentrations than hexarelin or GHRH. However Ghrelin has a number of other actions: it promotes food intake, raises serum glucose and inhibits insulin secretion, increases ACTH and cortisol secretion and influences cardiac function.In orde...

Objective: To assess the understanding of congenital adrenal hyperplasia (CAH) among families of Caucasian White (W) and Asian (A) with CAH, and also to evaluate the need for interpreters for Asian families attending the North West Regional CAH clinic.Design: A parent directed questionnaire was administered by two interviewers, one of whom spoke Urdu,Punjabi and Bengali to 18 A families ( M = 8 F=18) and 39 W families (M=20 F=22) with children with CAH, ...

An estimated 5% of all newborns are born SGA (weight less than −2SD at birth), with 10% failing to catch up and becoming eligible for GH treatment. Not all children respond to GH, but the criteria for determining a non-responder have not been clearly defined. We have therefore evaluated first year growth performance of short SGA children treated with GH in The Growth Clinic, Manchester. Clinical and auxological data were collected retrospectively from the case records of...

Some people with obesity have hormonal, metabolic and circulatory changes that constitute the metabolic syndrome that resemble characteristics of patients with Cushing's syndrome. A link between the two conditions, possibly genetic, has therefore been suspected, and the glucocorticoid receptor gene (GRL, 5q31-q32) has been one of the candidate genes.The single nucleotide polymorphism N363S is an ATT to GTT missense alteration within exon 2 of G...

The TRH test is used in the diagnosis of hypothalamic-pituitary (hp) disorders in children. It is unclear how often the result of this test is helpful. We have examined the results of TRH testing in 143 children investigated primarily for disordered growth. Children with hp axis tumours were excluded.The TSH response to TRH (5microg/kg iv) was defined as abnormal if the peak TSH was <5mU/L (pituitary), or if the peak TSH at 60 mins was higher than at ...

SEVERE HYPERCALCEMIA CAUSED BY A VISIBLE PARATHYROID ADENOMA IN AN ADOLESCENT FEMALEU.Das1, H Iassac1, H Kanchi1, DA Price1, GM Humphrey2 & C M Hall1Departments of 1Endocrinology and 2Surgery, Royal Manchester Children's Hospital, Manchester, Hospital Road, Manchester M27 4HA.A 16-year-old female collapsed following a 24-hour history of severe abdominal pain and vomiting. She was shocked, hypertensive (16...

CHI is a disorder of dysregulated insulin release characterised by severe recurrent hypoglycaemia. Mutations in genes encoding the beta-cell sulphonylurea receptor (ABCC8) and inward-rectifying potassium-channel (KCNJ11) are the commonest genetic cause of CHI, followed by that encoding glutamate dehydrogenase (GLUD-1). Histologically, disease pathology is subdivided into diffuse or focal disease; the latter associated with paternal mutations and somatic lo...

Previous research concerning the cognitive profile of children with CHI has identified a high incidence of significant learning difficulty (Rother et al. 2001, Jack et al. 2003). Both studies report an incidence of 30 to 50% cognitive skills within the learning disability range in both study populations. Furthermore, Rother et al. (2001) suggested that all children investigated demonstrated some form of cognitive difficulty, ranging from learning disabilit...

CDGP is a common growth disorder, often dominantly inherited. Genetic association is thus very likely. There are many possible candidates but none are yet linked to CDGP. We assessed the possible contribution of L, LR genes (mutations in each cause very delayed or absent puberty), CART (mediates the effect of L on GnRH pulse generation), and GPR54 (a hypothalamic G-protein coupled receptor, which is mutated in familial hypogonadotrophic hypogonadism) genes.<p class="abstex...

In childhood an appropriate response to GH treatment is achieved by titration of growth response against dose administered, with careful observation for side-effects. In order to evaluate the potential use of IGF monitoring in children treated with GH, a cross-sectional study has been carried in 215 children and adolescents (134 with GH deficiency, 54 with Turner syndrome and 29 with non-GHD growth disorders) treated with GH for 0.2 to 13.7 years.IGF-I ...