Endocrine Abstracts

Background: Maternal high fat diet (HFD) exposure is thought to perturb offspring metabolism, however the literature on experimental animal studies is inconsistent.Objectives: (i) In experimental studies, appraise data regarding metabolic parameters in offspring of mothers who consumed a HFD, (ii) assess possible predictors for these, and (iii) explore the quality of the evidence base.Methods: Searches were performed in four electr...

Activation of the hypothalamo-pituitary-gonadal axis, from the third trimester of pregnancy to the first post-natal months in males, results in serum concentrations of gonadotrophins and testosterone approaching adult levels. This phase, known as male mini-puberty, represents a key window of opportunity to identify congenital GnRH deficiency in early childhood.We present a case to illustrate the diagnostic efficiency of screening for mini-puberty in a ma...

Background: Accurate diagnosis of an underlying cause of thyrotoxicosis is critical for targeted therapy. Thyroid radionuclide uptake scan is a useful second line investigation in patients who lack TSH receptor antibody. The uptake scan patterns identify patients who can be preferentially treated with anti-thyroid drugs (diffuse pattern - Graves’ disease) or radio-iodine treatment (patchy uptake - multinodular or localised uptake – toxic adenoma) or simple monitoring...

Turner’s syndrome (TS) results from a genetic abnormality in phenotypical female individuals where the second X chromosome is either absent or present in a mosaic form. The most obvious consequences are short stature and primary amenorrhoea, although there are often dysmorphic features as well as cardiovascular and genitourinary complications. 90% of TS patients experience primary amenorrhoea with subsequent infertility. Spontaneous recovery of ovarian function in patient...

Background: The UK acromegaly register reported that <60% of acromegalics on medical therapy had controlled disease (1). Pegvisomant, a growth hormone antagonist (GHA), controls disease in >95% cases, but is not cost-effective and requires high dose daily injections (2). We have developed a fusion technology for making a cost-effective long-acting GH molecule (3), and generated a GHA by linking mutated growth hormone to its binding protein (GHBP).<p class="abstext"...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder (1:4′000-10′000) characterized by absent puberty and infertility. There is striking gender discordance (3–4 males for each female case) thus women with CHH are the “rarest of the rare”. Unlike many orphan conditions, treatments are available and hormonal therapies are effective for inducing puberty and fertility. However, the presumable availability of treatment does not ne...

Introduction: Turner Syndrome (TS) is associated with a higher overall morbidity and mortality than the general population, with respiratory diseases as one of the major causes. Haemophilus influenza type B (HiB) and pneumococcal (PC) vaccination can reduce morbidity and mortality, by alleviating the risk of respiratory diseases. All patients in the Newcastle Adult Turner Syndrome clinic who lack immunity to either HiB or PC at baseline receive vaccination in our TS clinic. Ho...

Introduction: Osteonecrosis is an increasingly common complication in young people treated for acute lymphoblastic leukaemia (ALL). This is likely to be due to the now universal use of high dose steroids.Aim: The aim of this study was to obtain information on prevalence, current UK management and long-term outcomes of patients.Methods: We retrospectively collated data on patients with osteonecrosis for the most recently completed t...

Introduction: Total daily insulin required to achieve glycaemic control in type 1 diabetes (T1D) depends on numerous factors. Correlation of insulin requirement to BMI and waist circumference has been variably reported in the literature, whilst that of WHtR has not been studied.Aims: To study the correlation between daily insulin requirement (TDD) and WHtR in a multi-ethnic population.Methods: A cross-sectional study of children (5...

Introduction: There has been a substantial increase in our knowledge of the genetic architecture of thyroid function, with numerous variants associated with TSH and/or FT4 levels. However, our knowledge of the genetic variants associated with thyroid disease is more limited.Methods: Data was obtained from the Neale laboratory† which provided a case-control study to identify single nucleotide polymorphisms associated with a diagnosis of hypothyroidi...