Endocrine Abstracts

Milk Alkali syndrome (MAS), a rare cause of hypercalcaemia, is reversible and caused by the ingestion of large amounts of calcium (Ca) and absorbable alkali. We report a case of MAS in a 37 year old female, admitted with Ca of 3.44 (2.15–2.62 nmol/l). Presenting complaints include 6 months history of worsening fatigue, thirst, polyuria, abdominal pain and a complex background of bipolar disorder, fibromyalgia, spina bifida, lumbar spine fusion and extremely limited mobili...

Background: Childhood obesity is a growing problem worldwide, with serious effects on child health. Obese children are at a higher risk of developing metabolic co-morbidities earlier in life (WHO, 2013). Manchester has worse than national average levels of obesity, with an estimated 14 000 obese children (PHE, 2014).Aims and methods: A retrospective case note analysis of 117 obese paediatric patients, seen in our service between March 2012 and 2014, was ...

Introduction: Focal congenital hyperinsulinism (F-CHI) is caused by dual-hit pathology, comprising a paternally-inherited ABCC8/KCNJ11 mutation and somatic loss of the maternal allele at chromosome 11p15. This leads to dysregulation of insulin secretion and β-cell overgrowth with a focal domain.Objectives: To compare the proliferative index (PI) of the F-CHI lesion and non-lesion pancreatic tissues to age-matched control pancreata and insul...

Introduction: We present a 5-year-old girl with thyroid hormone resistance, subsequently discovered to be heterozygous for TRβ mutation. This case highlights the necessity to investigate, in detail, all children with persistently high thyroxin with normal TSH levels in order to aid future management and the necessity to follow them up.Case report: SD was born at term by normal delivery weighing 3.34 kg (50th centile). She was referred at 6 months of...

Background: The diagnosis of growth hormone deficiency (GHD) is based on a combination of clinical suspicion supported by growth hormone stimulation testing. IGF-1 and IGFBP-3 are used as supportive markers. Reports over the last decade have examined the performance of IGF-I and IGFBP-3 in the diagnosis of GHD. It is important that each unit evaluates the utility of these markers in the assay used by their laboratory based on relevant normative data.Aim:...

Background: Poorly controlled diabetes is associated with dyslipidaemia including high cholesterol and LDL concentrations. This increases the long term risk of atherosclerosis and cardiovascular complications. In children and young people with type 1 diabetes, management with lipid lowering agents is controversial and to date long term evidence of benefit is limited. We report a case of severe dyslipidaemia and the impact of improvement in glycaemic control.<p class="abste...

Introduction: Congenital hyperinsulinism (CHI) is a rare condition of dysregulated insulin secretion causing hypoglycaemia. Oral Diazoxide is used as first line therapy for CHI. In those who are Diazoxide unresponsive, subcutaneous Octreotide is used as second line treatment. Octreotide has recognised side effects of biliary stasis. Additionally, we report hepatitis as a complication of Octreotide therapy in a child with CHI.Case report: A neonate with C...

Introduction: Congenital hyperinsulinism (CHI) is characterised by abnormally regulated and excessive insulin secretion by pancreatic β cells. First line management includes an oral suspension of Diazoxide but a standardised formulation is not universally employed. Anecdotal evidence suggests that different formulations can alter the management of glucose levels. Lack of glucose control can lead to permanent brain damage and adversely affect neuro development.<p class...

A 22-year-old woman with hypophosphataemic rickets was diagnosed at age four when she presented with short stature and valgus deformity of the lower limbs. Biochemical testing, genetic screening and radiological investigation of her family showed no abnormality and it was concluded that she had a de novo mutation.She was treated with 1α-calcidol and phosphate Sandoz with regularly monitored biochemistry. She had poor adherence to her medicati...

Background: Children with hypoglycaemia due to Congenital Hyperinsulinism (CHI) usually present in the neonatal period but late presentations also occur. The phenotype of late-presenting CHI has not been well described.Aim and methods: We have reviewed the clinical course of children (n=22) presenting with CHI after 1 month of age in relation to mode of presentation, rapid KATP genetic mutation analysis, neurodevelopment, clinical progr...