Endocrine Abstracts

Activating mutations of the calcium sensing receptor (CaSR) result in autosomal dominant hypocalcaemia with hypercalciuria (ADHH), in which patients may also suffer from polyuria, polydipsia, nephrocalcinosis, renal impairment, and ectopic calcification. A mouse model, Nuf, with an activating Leu723Gln CaSR mutation has been reported to develop the features of ADHH as well as cataracts that consist of dot nuclear opacities, which have not been described in ADHH patients...

The G-protein coupled calcium-sensing-receptor (CaSR) regulates calcium homeostasis and inactivating mutations result in familial hypocalciuric hypercalcaemia (FHH), whilst activating mutations result in autosomal dominant hypocalcaemia with hypercalciuria (ADHH). Allosteric CaSR modulators consist of: calcimimetics, which activate the CaSR e.g. Cinacalcet, that is used to treat the hypercalcaemia of chronic renal failure and metastatic parathyroid carcinoma; and calcilytics e...

(This poster is based on OC24)...

Case history: A 38-year-old woman presented with blepharospasm, cramping of the hands, and paraesthesia primarily affecting the face and hands. Symptoms had been present for 10 years but had been progressive over the previous 12 months. Symptoms were consistent with neuromuscular instability. Hypocalcaemia and elevated Parathyroid hormone (PTH) were confirmed. Past medical history was notable for anorexia nervosa in remission. Family history was non-contributary. Hypocalcaemia...

Background: Type III hyperlipidaemia (T3HL) is characterised by equimolar increases in plasma triglyceride and cholesterol on an APOE2/2 genotype background and conveys a high risk of early-onset cardiovascular disease (CVD). Phenotypic penetrance of T3HL is <10% and precipitated by several endocrine/metabolic disorders such as obesity, diabetes and hypothyroidism. We explored the effect of triglyceride-raising polygenic score precipitating T3HL, in the context of...

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. An age-appropriate low dose hydrocortisone formulation is not available therefore manipulation a 10 mg tablet is required with potential for inaccurate dosing.Aims: To assess the variability in manipulation procedures recommended by healthcare professionals and undertaken by parents/carers. To quantify the dose-variabil...

Background: The standard synacthen test (SST) is commonly utilised to interrogate the hypothalamo-pituitary-adrenal (HPA) axis in children. It comprises baseline and 30-minute serum cortisol concentrations (SCC), after injecting synthetic adrenocorticotropic hormone (ACTH)[1–24]. There is debate regarding the utility of a 60-minute SCC in the SST protocol with most studies to date conducted in adults.Aim: To assess the utility of a 60-minute SCC in ...

Reproductive morbidity is increased in women with diabetes, including a higher prevalence of polycystic ovary syndrome, hypothalamic amenorrhoea and premature ovarian failure. Routine discussion of reproductive and menstrual dysfunction for women with diabetes remains a peripheral feature of clinical consultations. Here we aimed to determine women’s own reproductive care experience. We surveyed women of all ages attending routine diabetes care using a detailed clinical qu...

Introduction: Hypophosphatasia (HPP) is a very rare systemic musculoskeletal disease characterised by low tissue non-specific alkaline phosphatase (ALP). The prevalence of HPP and its associated morbidity in an adult setting is unclear.Methods: A search for serum ALP results less than 36 IU/l within NHS Greater Glasgow and Clyde between 2017 and 2018 revealed 16 280 results. A further search for patients with two ALP <36 separated by 30 days or more ...

Background: Identifying individuals harbouring germline mutations in hereditary cancer genes provides opportunities for tumour surveillance programs, disease-specific treatment and cascade testing in family members but is reliant on accurate variant interpretation, which may be confounded by imprecise methods for ascribing pathogenicity. Where insufficient evidence supports a definitive classification, ‘variant of uncertain significance’ (VUS) status is applied, whic...