Endocrine Abstracts

Maturity-onset diabetes of young 5 (MODY5) is a type of monogenic diabetes involving multiple organs including pancreas and kidneys. This is caused by mutation/deletion of the hepatocyte nuclear factor-1β (HNF-1β) gene located in the chromosome region 17q12.We report a 10-year-old, non-obese girl who was diagnosed with diabetes with features of insulin resistance. She was found to have a heterozygous whole gene deletion of HNF-1&#9...

Background: Hashimoto’s thyroiditis and Grave’s disease are the common autoimmune diseases of thyroid gland across all age groups. Some patients with autoimmune hyperthyroidism can become hypothyroid however it is rare for patients with hypothyroidism to develop Grave’s disease. Although some cases have been reported in adults, this phenomenon is very rare in the paediatric age group. Case: 13 year old Caucasian girl who was diagnosed with...

A 4.9-year-old girl presented with symptoms suggestive of early puberty and rapid growth. Her medical history revealed that she had been a tall child since infancy. Family history was notable for Lynch syndrome in her father and paternal grandmother. Upon examination, the patient was pre-pubertal but had a height of 124 cm (SDS 3.5) and a height velocity of 15 cm/year. Further investigations revealed elevated levels of IGF-1, IGFBP3, and failed GH suppression on an OGTT, indic...

Background: Glucagon (GST) is used as an alternative to insulin (ITT) to diagnose GH deficiency (GHD) and adrenal insufficiency (ACTHd). However the peak cortisol response to diagnose adrenal insufficiency varies (550, and 500 nmol/l), has been extrapolated from adults undergoing intraoperative stress and not fully validated.Aim: To determine the peak cortisol ‘cut off’ level which most accurately predicts clinically significant adrenal insuffi...

Introduction: Factors determining remission and relapse in children with thyrotoxicosis include ethnicity, age and thyroid hormone levels at diagnosis. We investigated if similar factors influence remission and relapse in a contemporary cohort of children with autoimmune thyrotoxicosis treated by dose titration of carbimazole.Methods: Forty-seven children (39 females) with thyrotoxicosis, treated with carbimazole, were followed up for ≥2 years. Ini...

Congenital Hyperinsulinism (CHI), a common cause of persistent hypoglycaemia in infancy can be associated with feeding problems (FP). The extent of FP in CHI is not known. The commonest genetic cause of CHI is mutations in ATP-sensitive potassium (K+ATP) channel genes (ABCC8 and KCNJ11).Aims: To define FP in CHI patients presenting to a regional centre, in relation to medication and K+ATP ...