Endocrine Abstracts

Background: Salivary biomarkers are attractive diagnostic tools for paediatric practice, enabling non-invasive sampling at home. Salivary cortisol (SCl) and cortisone (SCn) are sensitive markers of adrenal insufficiency during inhaled corticosteroid treatment(1). SCn is reported to be the best correlate of plasma cortisol. Measurements of SCl may not be necessary, reducing cost and sample volumes.Eleven beta hydroxysteroid dehydrogenase type 2...

Few Paediatric Endocrinologists seek alternative careers on completion of subspeciality training. In addition to developing optimal clinical services, however, opportunities exist to work at the interface of clinical medicine and basic scientific research. Exciting developments in the investigation, diagnosis and treatment of paediatric endocrine patients reflect the success of collaboration between basic scientists and clinicians, paediatricians and adult physicians.Short...

Introduction: Cortisol insufficiency has been reported following cardiac surgery in infants but has not been associated with postoperative complications. In our hospital serum cortisol is measured following cardiac surgery when hypotension is refractory to two inotropes at maximal dose.Methods: Retrospective case note study to describe features of adrenal insufficiency in post-operative cardiac patients with low serum cortisol.Resu...

Introduction: Non-alcoholic steatohepatitis (NASH) is part of the spectrum of non-alcoholic fatty liver disease (NAFLD). NASH commonly occurs in patients with type 2 DM and is less recognised in type 1 DM. The natural history of NASH in adult patients suggests potential development of progressive fibrosis and cirrhosis. However, secondary glycogenosis, commonly occurs in type 1 DM, is reversible when good glycaemic control is achieved, but may be misidentified as NASH b...

In boys with constitutional delay of growth and puberty (CDGP), puberty may be induced with a short course of testosterone, either as esters or enantate injections. While both types of testosterone are known to be effective in inducing puberty, there are no studies comparing their efficacies. We have compared height gain, a quantitative marker of puberty, between boys treated with a short course of testosterone esters and enantate injections in a retrospective, observational s...

SHOX has been implicated in the regulation of bone growth and modelling. Haploinsufficiency and heterozygous mutations of SHOX are associated with Lerri Weil Dyschondrosteosis (LWD). The cardinal features of LWD are mesomelic limb shortening and Madelung deformity. Histological studies demonstrate premature fusion of the ulna border of the radial epiphysis and disordered osteoblast maturation and orientation. In view of these observations we investigated the role of SHOX in th...

Background: Cortisol profiles during treatment with standard hydrocortisone (StdHC) formulations are unphysiological. Some patients, with low cortisol levels between doses, experience symptomatic hypocortisolaemia and may benefit from modified release hydrocortisone (MRHC). Plenadren is a MRHC licensed for once daily dosing in adults.We offered Plenadren to patients with symptomatic hypocortisolaemia, documented to occur at times of low cortisol levels, ...

Objectives: There is some evidence that growth hormone deficient (GHD) children with a common polymorphism of the growth hormone receptor (GHR) gene, resulting in deletion of exon-3 (d3GHR) on one (d3/fl) or both alleles (d3/d3), have a better growth response to rhGH than those who express exon 3 on both alleles (fl/fl). We speculated that adult patients with this polymorphism may also be more sensitive to rhGH and less likely to be symptomatic from GHD th...

Introduction: Impairment of the hypothalamic–pituitary–adrenal (HPA) axis has been reported widely in children treated with inhaled corticosteroids (ICS). The integrity of HPA axis has been assessed using low (500 ng/1.73 m2 body surface area) and standard (250 mg) dose short synacthen tests (SST). Serum cortisol is measured at 0, 15, 20, 25, 30 and 35 min intervals in the low dose SST (LDSST) and at 0, 30 and 60 min in the standard dose SST (SDSST). The L...

Congenital hyperinsulinism of Infancy (CHI) can be associated with cardiac problems such as septal hypertrophy and reversible hypertrophic cardiomyopathy (Breitweser et al. 1980, Harris et al. 1992); however, the prevalence and range of cardiac abnormalities in CHI has not been well investigated.Aims and methods: With National Research Ethics Service approval and consent, we retrospectively reviewed the prevalence of cardiac abnormalities in 48 children ...