Endocrine Abstracts

Carriage of the exon 3 deletion in the GH receptor (GHR) gene has been reported to enhance growth response to GH therapy in a range of conditions. JAK2 and PI3Kinase are involved in signal transduction from the GH (JAK2/PI3Kinase) and IGF-1 (PI3Kinase) receptors. We have investigated whether single nucleotide polymorphisms within these genes influence growth response to GH therapy. DNA was taken, with ethical approval, from 97 children treated with GH therapy in a single growt...

Introduction: There is scarcity of information regarding the profile of patients with Pheochromocytoma and paraganglioma from India.Aim: To study clinical profile of patients with Pheochromocytoma (PHEO)/Paraganglioma (PGL) attending the AIIMS hospital.Methodology:: Study protocol was approved by the AIIMS ethics committee. Written informed consent was taken from patients (parents in case of children). Patients of PHEO & PGL at...

Introduction: 3-M syndrome is an autosomal recessive disorder characterised by pre- and postnatal growth restriction, characteristic facial dysmorphism, normal intelligence and radiological features (slender long bones and tall vertebral bodies). It is known to be caused by mutations in the genes encoding Cullin 7 (a component of the ubiquitination system) and Obscurin like-1 (a cytoskeletal protein). The mechanisms through which mutations in these genes impair growth are uncl...

Neuropeptide Y (NPY) is a centrally expressed peptide with potent orexigenic properties, released post-prandially to stimulate appetite, regulated by insulin and altered by obesity. NPY is expressed in adipose tissue which suggests it may have a potential effect on altering appetite control in obesity. To date no study has investigated NPY and its regulation in human adipose tissue. Therefore, the aims of this study were to 1) determine the depot-specific expression in abdomin...

Oral but not transdermal ORT reduces serum IGF-1 levels in postmenopausal women. The effect of ORT type on GH dose and sensitivity is unclear. We present a retrospective analysis of GH-deficient women on ORT in the KIMS database.AIM: To determine the type of oestrogen prescribed and its effect on GH dose.METHOD: Patients were divided into groups taking oral oestradiol valerate, conjugated oestrogen, ethinyloestradiol and transderma...

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...

We(1) and others have established that men with coronary heart disease (CHD) have lower serum testosterone levels than men with normal coronaries. Hypotestosteronaemia is associated with dyslipidaemia, visceral obesity, insulin resistance, hypertension and a prothrombotic state.The aim of this study was to determine the prevalence of hypogonadism in men with CHD proven by either greater than 70 per cent stenosis of one or more epicardial or greater than 50 per cent stenosi...

Introduction: The true prevalence of clinically relevant pituitary adenomas has been reevaluated at 1/1064 of the population (1). Among them, prolactinomas represent the majority with a prevalence of 1/2000. They occur usually in females, aged 20–50 Y.O., and 80% are microadenomas. Nearly 5% of prolactinomas appear in a familial or genetic setting (MEN-1 or FIPA) (2). Cabergoline is proposed as the first line therapy and is usually efficient to normalize prolactin (PRL) l...

Background: The CYP11B1 (11β-hydroxylase) and CYP11B2 (aldosterone synthase) genes are found in close proximity on human chromosome 8 and are highly polymorphic, enabling the definition of two common haplotypes. Haplotype1 includes the -344T and the Intron2 conversion polymorphisms in CYP11B2 and also the -1889T, -1859G polymorphisms in the regulatory region of CYP11B1. We and others have shown that these associate with increased aldosterone pr...

Several studies have shown a positive correlation between parity and reduced hip fracture rate later in menopause while others have shown no correlation or a negative one. Thus, it is possible that some of the conflicting results reported in literature may be attributable to differences in the ages of the populations studied or of the concomitant presence or not of osteoporosis.In order to elucidate these conflicting results, a population based observati...