Endocrine Abstracts

Glucocorticoid hormones are used in the treatment of variety of diseases, due to their diverse range of effects. Acute lymphoblastic leukaemia (ALL), the most common form of childhood cancer, is one such disease treated by glucocorticoids (GCs). Although there has been much success in the treatment of ALL with GCs, drug resistance remains a problem, despite the detailed knowledge of the signalling networks underlying the GC actions through the glucocorticoid receptor (GR). Sys...

FNA of the thyroid is used for fast and early assessment of thyroid nodules, however it is sensitivity as a useful diagnostic test depends largely on the technique, experience of the aspirator and expertise of the cytologist. We undertook a retrospective audit of FNA to evaluate our results and compliance with the national guidelines.We examined 121 patients had FNAs at Pinderfields Hospital from October 2000 to June 2007. The cohort was comprised of 106...

Reproduction in mammals is centrally regulated by neuroendocrine neurons scattered in the hypothalamus and secreting the decapeptide GnRH (gonadotropin releasing hormone). During development, GnRH-secreting neurons originate in the olfactory placode – at least in rodents – and migrate along olfactory nerves (the vomeronasal and the terminalis) to gain access to the forebrain and reach their final destinations in the hypothalamus. Defects in the migration of these neu...

Analysis of sweat is well-established for the diagnosis of cystic fibrosis and for testing for drug abuse. Cortisol, cortisone and aldosterone were identified in sweat in 1948, and the presence of 11 beta hydoxysteroid dehydrogenase type 2 in the epidermis was reported in 1990. At present there are no studies of the diagnostic value of sweat cortisol measurement. We have evaluated the use of a sweat patch comprising a small 47 by 32 mm rectangle of filter paper secured by a wa...

Introduction: National guidance from the Association of Children’s Diabetes Clinicians (ACDC) recommends starting children with newly diagnosed type 1 diabetes mellitus on a total daily insulin dose of 0.5–0.75 iU per kilo per day (kg/d). This equates to a basal insulin dose of between 0.25–0.375 iU/kg per day. Local practice suggested many patients required a significantly smaller starting dose of basal insulin.Ai...

Background: 11β-hydroxysteroid dehydrogenases (11β-HSD1&2) interconvert cortisol (F) and cortisone (E). Although 11β-HSD1 reductase activity has been measured in vivo, E production (dehydrogenase activity) has not been quantified using a Gold Standard technique, steady state tracer infusion.Aim: To develop a method to measure E production in vivo using the stable isotope tracer d2-cortisone (d2E).Me...

Background: Growth hormone insensitivity (GHI) is a continuum defined by normal/elevated growth hormone (GH), low IGF-I levels and growth restriction. Non-classical/mild-moderate GHI is poorly characterised and is frequently underdiagnosed. Heterozygous dominant negative (DN) gene variants located in the regions encoding the intracellular/transmembrane domains of the GH receptor cause a ‘non-classical’ GHI phenotype.Hypothesis/Objective: Detail...

Case history: Two unrelated male patients were referred for evaluation of short stature. The first patient aged 16.5 years, had a birth weight of 2.6 kg at term (BWSDS -2.4), height 153 cm (HSDS -3.2) at referral and normal BMI SDS of 0.6. He had early postnatal hypoglycemia, which was conservatively managed, but no other significant clinical history. He had relative macrocephaly and disproportionate short stature. His mother was also short with a similar phenotype (height 147...

Background: Pathogenic IGFI gene mutations causing childhood growth failure are extremely rare. Only five autosomal recessive mutations, one IGFI copy number variant and two heterozygous frameshift mutations are reported. Heterozygous missense IGFI mutations haven’t previously been described.Objectives: To identify and functionally characterise a novel missense IGFI variant in a patient with postnatal growth failu...

Background: Gastroenteropancreatic Neuroendocrine Neoplasms (GEP-NENs) are a rare subset of cancers which nevertheless are a rising health burden. Development of new therapies suffers from several bottlenecks, including low patient accrual and poor understanding of tumor characteristics. Patient tumor organoids (PTOs) are a novel model capable of improving screening of patient tissue in an accurate, standardized, and high-throughput capacity. In this study, we utilized patient...