Endocrine Abstracts

High altitude exposure leads to a marked natriuresis and diuresis facilitated by a reduced resting and subdued post-exercise aldosterone. There is a strong correlation between aldosterone and cortisol at high altitude and although most, but not all, investigators report a rise in cortisol with ascent very little data exist regarding the post-exercise response in cortisol. We therefore measured salivary cortisol in a cohort of 45 subjects post-exercise and 20 subjects at rest w...

Calcium sensing receptor (CaSR) mutations may result in either hypocalciuric hypercalcaemia or hypocalcaemic hypercalciuria due to a loss or gain of function, respectively. It has also been postulated that some gain of function CaSR mutations may result in idiopathic (i.e. normocalcaemic) hypercalciuria (IH). We reasoned that such CaSR mutations would lead to an early onset of IH and have sought for them in 12 unrelated children who were normocalcaemic and developed IH nephrol...

The calcium sensing receptor (CaSR) plays a central role in altering the secretion of parathyroid hormone (PTH) in response to alterations in extracellular calcium, and four studies have reported an association between CaSR polymorphisms and serum Ca 2+, serum PTH, and bone mineral density (BMD). However, two other studies have failed to detect such associations. We have therefore undertaken studies to investigate the Ala986Ser, Arg990Gly, and Gln1011Glu CaSR polymo...

Gout, which is commonly associated with hyperuricaemia, affects 0.2% of the population. Hyperuricaemia has a heterogeneous aetiology that may be due to either over production and/or reduced renal clearance, of urate. In order to identify the mechanisms underlying reduced excretion of urate, we undertook positional cloning studies of familial juvenile hyperuricaemic nephropathy (FJHN), which is an autosomal dominant disorder characterised by hyperuricaemia, a low fractional ren...

Introduction: Disorders of sexual development (DSDs) are estimated to occur in 1 in 4500 births. This potentially represents one baby born every other day in the UK. We aim to explore how Mersey foundation and paediatric trainees deal with newborn babies with possible DSD and identify if there is a need for further training in this subject.Methods: An online survey composed of 10 questions was distributed amongst foundation and paediatric trainees in Mer...

Introduction: Reports suggest the karyotype of up to 10% of women with Turner syndrome (TS) includes presence of a Y chromosome. Current guidelines recommend early gonadectomy given the potential risk of gonadoblastoma. However, the evidence basis for this practice is not strong. We aimed to assess pubertal development, clinical features, incidence of gonadoblastoma and long-term outcome including pregnancy in an adult-tertiary care TS clinic.<p class="abs...

Introduction: Hypophysitis (Hp) is a serious adverse effect (AE) of Immune check-point inhibitor (ICI) therapy in malignancy. We evaluated 6 yeas of clinical expereince with ICI against the recent ESE CPG 2023 which provides practical guidance on the management of this condition based on up-to-date evidence.Methods: A quality improvement project (QIP) included all patients with ICI-Hp (n=17) referred to a dedicated Endocrine-ICI clinic (January ...

Turner Syndrome (TS) affects 1:2500 females and is caused by the partial or complete loss of one X chromosome. About 80% of women with TS experience primary amenorrhea and therefore the only option for fertility treatment is ovum donation (OD). The remaining 20% may have the opportunity for a spontaneous pregnancy. Pregnancy in women with TS has been associated with excess obstetric risk such as miscarriage and hypertension. Maternal mortality has been estimated to be 2% risk ...

Introduction: A complex cocktail of endocrine-disrupting and other chemicals is ubiquitous in the modern environment. Exposure to such chemicals contributes to diseases including metabolic syndrome and infertility. The liver is the primary defence organ against xenotoxicants, but also the source of major of plasma proteins, and growth factors/hormones.Aim: To understand how chronic exposure to complex mixtures of chemicals at human and environmentally re...

Objectives: To establish the frequency of islet cell autoimmunity in children with a clinical diagnosis of type 2 diabetes (T2DM) and describe associated clinical and laboratory findings.Methods: We recruited children with: paediatrician diagnosis of T2DM; BMI above 85th centile for age and sex; children with other confirmed diagnoses such as monogenic and type 1 diabetes (T1DM) were excluded. Clinical data was collected into a national database. Blood w...