Endocrine Abstracts

Rickets is a condition only seen in growing children due to disorders that result in impaired apoptosis of hypertrophic cells and mineralisation of the growth plate and osteoid. Although there are a variety of causes of rickets vitamin D deficiency remains the commonest cause worldwide with evidence of a resurgence in some developed countries.There are several modes of presentation of vitamin D deficiency dependent on the age and growth rate of the child...

Objectives: To define clinical and metabolic factors associated with severe hypoglycaemia (SH) in affected individuals with Type 1 diabetes (T1DM).Methods: Individuals with T1DM and SH (defined as hypoglycaemia requiring third party intervention within the preceding 12 months) were characterised to include screening for other underlying autoimmune disease (coeliac serology, short synacthen and thyroid function tests); a questionnaire to evaluate underlyi...

Type 1 pseudohypoaldosteronism (PHA1), defined as resistance to aldosterone, is characterised by salt wasting, hyperkalemia and metabolic acidosis and is associated with high renin and aldosterone levels. The autosomal recessive form is characterised by generalised salt wasting and is due to a defect in the epithelial sodium channel. Whilst there are individual case reports on this condition, there are little published data on long-term outcome including neurodevelopment.<...

Aims: To compare glycaemic control and change in body mass index (BMI) in children and adolescents newly diagnosed with type 1 diabetes (T1D) and started on either twice daily insulin (BD) or multiple daily insulin (MDI).Methods: This study looked retrospectively at all children newly diagnosed with T1D at our hospital from January 2006 to June 2007. There were 44 children and the outcome measures used were change in haemoglobin A1c (HbA1...

Objective: To compare clinical characteristics in individuals with established Type 1 diabetes mellitus with and without altered hypoglycaemia unawareness (AHA) / severe hypoglycaemia (SH).Methods: Individuals with AHA and/or SH and controls matched for age, sex and duration of diabetes but with no history of AHA or SH were identified from databases of those attending the Newcastle Diabetes centre with Type 1 diabetes. Characteristics were confirmed from...

Aims: To compare glycaemic control and weight gain in children with type 1 diabetes changing from twice daily premixed insulin to multiple daily injections (MDI) with either insulin glargine or insulin detemir.Methods: A retrospective study of 41 consecutive children and adolescents with type 1 diabetes, changed to MDI between January 2005 and April 2007, with outcome measures of HbA1C change and body mass index SDS (BMI-SDS) change after 12 months of MD...

Growth hormone insensitivity, also known as Laron Syndrome (LS), is caused by mutations within the GH receptor (GHR). A 1.5 year-old boy with consanguineous parents was referred with postnatal linear growth failure (length 64 cms, minus 6 SDS). Facial features were typical of LS. Investigation revealed elevated serum GH (1145 mIU per litre) and low IGF-I (4 nmol per litre). Genomic DNA was isolated from peripheral blood leucocytes and all GHR exons, including intron-exon bound...

A 16-year-old boy was referred to our endocrine unit. He had been diagnosed with constitutional short stature (height <10th centile) aged 11, having not grown well for two years. At that time there were no features to suggest Cushing's syndrome (CS), though he was overweight (BMI 22kg/m2, >90th centile) and bone age was delayed by 2 years. A trial of growth hormone (GH) therapy did not increase growth velocity. By age 15, he was developin...

65-year-old lady presents to GP with 3-month history of fatigue, weight loss and nausea with background of stable Chronic Lymphocytic Leukaemia (CLL). GP started Levothyroxine 25 mg OD due to low T4 of 5.9 pmol/l (12-22) and low TSH of 0.25 mU/l (0.27-4.2). As she continued to feel tired, random cortisol was requested which was low at 25nmol/l leading to admission. Admission cortisol was 55nmol/l with an inappropriately normal ACTH of 11.6 ng/l (7.2-63.3). Pituitary profile sh...

Introduction: Two insulin regimes are commonly used in type 1 diabetes (T1D): twice daily (BD) premixed insulin (short and intermediate acting), and multiple daily injections (MDI) of short acting insulin with once daily bolus of long acting insulin. MDI is associated with better glucose control in adults, but the evidence base is weaker for children.Objectives: We aimed to compare children started on MDI to BD from diagnosis, on HbA1c as a measure of gl...