ESPE Abstracts

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterised by bone mineralisation defects and osteomalacia, and systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase activity, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease s...

Background: The classical presentation of type 1 diabetes mellitus is as diabetic ketoacidosis. As health awareness and access to healthcare improves, more subjects with type 1 diabetes are diagnosed early and present with less severe forms of hyperglycaemia. India accounts for most of the children with type 1 diabetes in South East Asia, but studies on the initial presentation is lacking from India.Objective and hypotheses: The aim of the study was to a...

Background: First line treatment for thyrotoxicosis is thionamide (TA) antithyroid drug therapy. The TA used is usually Carbimazole in the UK. TA can be administered in a relatively large 'blocking' dose that prevents endogenous thyroid hormone synthesis, requiring thyroid hormone replacement (block and replace or BR), or in a smaller dose that renders the patient euthyroid (dose titration or DT). The American Thyroid Association (ATA) recommends DT be...

Introduction: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. POR is a crucial electron donor to all microsomal type 2 P450 cytochromes (CYPs), including 21-hydroxylase (CYP21A2) and 17alpha-hydroxylase (CYP17A1). The hallmark feature of PORD is combined sex-steroid a...

Background: Insulin resistance occurs in a variety of common endocrine disorders including obesity, type 2 diabetes, polycystic ovarian syndrome, and metabolic syndrome. Additionally, rare syndromes exist that result in extreme insulin resistance. These conditions help contribute to our knowledge of the mechanisms of insulin signalling and resistance.Objective and hypotheses: We report a case of a 12 year old female presenting to endocrinology clinic for...

Background: Disorders of sex development (DSDs) refer to congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present neonatally with ambiguous genitalia preventing immediate gender assignment or during adolescence where atypical sexual development becomes apparent. Genetic testing is key in establishing a diagnosis, allowing for personalised patient management and may significantly reduce the period of uncertainty for families ...

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...

Methods: Patients commenced 0.75mg/kg carbimazole (CBZ) daily with randomisation to either BR or DT. We examined baseline patient characteristics, CBZ dose, time to serum TSH/FT4 normalisation and BMI Z-score. Results: There were data available from 80 patients (baseline) and 78 patients (61 female) at 6 months. Mean CBZ dose was 0.9 mg/kg/day (BR) and 0.5 mg/kg/day (DT). There was no difference in the time taken for...

Background: Survivors of childhood cancer are at increased risk of cardiovascular morbidity and mortality in later life. Although the brain is known to be involved in control of metabolic functions including appetite regulation and energy expenditure (1), little data are available relating to the risk of metabolic dysfunction secondary to cerebral injury. Several studies have attempted to investigate the impact of exercise on physical and psychosocial parameters in survivors o...

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in the neonatal period, characterized by unregulated insulin secretion by pancreatic β-cells. In addition to medical therapy, frequent feeding to prevent hypoglycaemia is one of the most important aspects in the management of CHI.Objective and hypotheses: To identify the number of patients with CHI who have associated feeding difficulties and determine ...