Endocrine Abstracts

We have reviewed the outcome of a low-dose step-up regimen for induction of ovulation in clomiphene-unresponsive women with PCOS and in women with hypothalamic hypogonadism (HH), treated at a single centre. Data from 366 women with PCOS and 80 with HH (1165 records) were entered into a FileMakerPro database, refined and constrained to allow stratification and analysis of relevant data. 85% of cycles were ovulatory in both PCOS and HH. PCOS patients were more likely to have cyc...

Polycystic ovary syndrome (PCOS) is a common endocrinopathy is associated with an adverse metabolic profile including obesity, insulin resistance, and dyslipidaemia. Hyperandrogenism is the hallmark of PCOS and androgen production is increased in the presence of increased adiposity. While a clear link between obesity and the severity of PCOS exists, the relationship between hyperandrogenism and adipose tissue is less clear. Interestingly, women with PCOS and raised androgen le...

Introduction: Despite the commonality of hyponatraemia in everyday clinical medicine it is often a poorly management condition in acute medical patients. A European guideline for diagnosis and management was published in 2014 to address such problems.Aims: To assess the standard of management of patients with hyponatraemia admitted to the medical departments in a rural District General Hospital. To improve investigation, diagnosis, and management of thes...

Childhood onset GH deficiency (CO-GHD) usually presents with aberrant growth. Treatment is recombinant GH (r-GH) to attain target height. The 2005 European Consensus statement on management of CO-CHD at transition indicates that most adolescents will require repeat GH testing at completion of linear growth. Patients with persistent GHD will require continuation of r-GH for wellbeing, optimal body composition and metabolism. However, there is little data supporting predictors o...

Background: Congenital Hyperinsulinism (CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition.Aims: The aim is to use the novel CRISPR/Cas9 gene editing technique to create a KO...

Introduction: Vitamin D deficiency/insufficiency in patients with primary hyperparathyroidism may be associated with more severe and progressive disease. In such patients there is higher levels of parathormone and markers of bone turnover, large parathyroid adenomas and more frequent fractures than vitamin D replete patients.Aims and objectives: To determine whether vitamin D repletion of patients with PHPT and co-existing vitamin D insufficiency or defi...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder. However, a familial hyperparathyroid syndrome is diagnosed in less than 5% of cases. We present two related cases of CDC73-related familial hyperparathyroidism due to a rarely described germline Leu63Pro missense mutation in CDC73 exon 2.Case report: The index patient, a 24-year-old female, presented acutely unwell with symptoms of hypercalcaemia. Her blood...

Case history: A 42-year-old female presented to the emergency department with dizziness, vomiting, abdominal pain and thirst. While investigating a 3-month history of lethargy, menstrual irregularity and weight loss, her GP had found a raised TSH, FSH and LH and had prescribed levothyroxine and, 1 week prior to admission, Adcal-D3 supplements. On examination, she was hypotensive and hyperpigmented.Investigations: Na+130 mmol/l (132–144), ...

A 64-year-old female presented to the acute medical take with hypercalcaemia. She had a 3 weeks history of polyuria, polydipsia, constipation, intermittent abdominal pain and feeling depressed. She reported weight loss of 3.5 kg over the past 6 months. She denied symptoms of dysphagia, dyspnoea, haemoptysis, haematemesis, or malaena. Her past medical history included anaemia, ischaemic heart disease, chronic obstructive pulmonary disease and uterine prolapse. She was an ex-smo...

Polycystic ovary syndrome (PCOS) is the commonest endocrine disorder in women of reproductive age. It is characterised by excessive ovarian androgen production which, in turn, has been implicated in the aetiology of aberrant follicular development. We have previously reported that prenatal exposure to androgens activates follicle growth1. It has been suggested that androgens may interact with the IGFs to promote the activation and growth of follicles. The aim of thi...