Endocrine Abstracts

Introduction: Prader–Willi Syndrome (PWS) is a rare genetic disorder due to loss of paternally inherited genes on chromosome 15q11-13. It is characterised by neonatal hypotonia, childhood obesity, hypogonadism, cognitive and behavioural disabilities, and development of scoliosis. We aimed to review the impact of growth hormone (GH) doses, scoliosis and IGF1 levels on height gain in children with PWS.Methods/design: Retrospective observational study ...

Introduction: Neurofibromatosis type 1 (NF1) is one of the most frequent genetic dominant syndrom in men with a prevalence of 1 in 2600 to 3000 individuals worldwide. NIH NF1 diagnostic criteria are driven by the most frequent manifestations of the disease (café au lait macules (CAL), neurofibromas, freckling, optic glioma, Lisch nodules and osseus lesions). There are many clinical manifestations of NF1 (neurological, cardiovascular, gastrointestinal, endocrine and orthop...

A 54-year-old female presented to her GP with a 9-year history of poorly controlled hypertension (requiring five drugs) and type 2 diabetes mellitus, associated with central weight gain, low mood and poor wound healing. On examination she had clinical evidence of glucocorticoid excess. Cushing’s syndrome was confirmed on low dose dexamethasone suppression testing (2+0 cortisol 857 nmol/l, 2+48 cortisol 346 nmol/l). Cushing’s day curve demonstrated loss of circadian r...

Introduction: In 2003, the UK National Institute for Clinical Excellence (NICE) established guidelines on the use of GH in adults. These guidelines state that recombinant GH should be used only for adults with a severe GH deficiency that severely affects their quality of life. To assess current practice in relation to these guidelines, a review of patients receiving GH treatment was performed. The aims were to assess if adults with GH deficiency met NICE criteria for GH therap...

Cystic fibrosis related diabetes (CFRD) is the commonest co-morbidity in CF leading to increased mortality rates. The pathophysiology includes pancreatic fibrosis, reduction in α and ß-cell mass, delayed insulin secretion and variable insulin insensitivity. Insulin production can fluctuate with progression over time to an insulinopenic state. We report two cases of young people with CFRD with high insulin requirements, poor glycaemic control and improvement with the ...

Background: Congenital hyperinsulinism (CHI) is the result of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia.1 Diazoxide is effective in virtually all forms of CHI except in those due to recessive (and some dominant) inactivating mutations in ABCC8 and KCNJ11 and in patients with focal CHI.2 We report a case of CHI with acute kidney injury secondary to diazoxide.Case ...

Background: Hypoparathyroidism is a rare endocrine disorder characterised by low serum calcium with inappropriately low parathyroid hormone (PTH) levels. Calcium and vitamin D analogues have traditionally been the mainstay of treatment. However, these treatments may cause complications and may not fully address the well-being of this patient group. This study evaluates the current management of hypoparathyroidism in a large UK teaching hospital compared against current Europea...

Background: Symptoms consistent with hypercalcaemia are an indication for surgery in patients with primary hyperparathyroidism (PHPT). However, symptoms can be subtle and may not be documented systematically. We analysed the documentation of symptoms in a large series of patients with PHPT, and the subsequent impact of introducing a symptom scoring questionnaire.Methods: A standardised proforma was used to retrospectively analyse symptom documentation by...

Background: Maternal obesity in pregnancy associates with higher birthweight. A key pathway is through placental regulation of hormones controlling foetal growth. As excess foetal glucocorticoid exposure associates with lower birthweight and since placental Insulin-like Growth Factor (IGF2) may be modulated by glucocorticoids, we hypothesised that the expression profiles of placental genes leading to reduced glucocorticoid exposure and increased IGF2 mRNA level correlate with ...

Introduction: The human masculinisation programming window (8–14 weeks of gestation) sees testis-derived androgen drive the foetus towards a male phenotype. However, there are few systematic studies of human foetal gonad development.Aim: To conduct a pilot analysis of the foetal gonadal proteome at the end of the masculinisation programming window (13–14 weeks of gestation).Methods: Twenty-eight electively terminated foet...