ESPE Abstracts

Background: Diabetes mellitus is a heterogeneous disorder with multiple aetiologies. Monogenic diabetes accounts for an estimated 2–5% of cases and is often associated with impaired pancreas development and β-cell dysfunction. Heterozygous mutations in the transcription factor, HNF1B, result in multi-system disease including diabetes due to β-cell dysfunction, hepatic insulin resistance and pancreatic hypoplasia. However, the mechanisms that underlie development...

Background: Small for gestational age (SGA) without subsequent catch up growth is an indication for GH treatment in Europe, the US, and Korea but not in Australia. However, many SGA are likely to be included under the ‘short stature and slow growth’ (SSSG) indication. It is unknown to what extent children born SGA are included in the Australian indications or how they differ from non-SGA patients within each indication and gender.Objective and ...

Children with Type 1 diabetes are experiencing higher levels of overweight and obesity as a consequence of intensive insulin therapy as well as background socioeconomic and environmental factors that are contributing to excess adiposity in the general population. The consequences of obesity in people with type 1 diabetes are of particular concern, as obesity in adults increases the risk of both diabetes-related and obesity-related complications, including cardiovascular diseas...

Background: PAPP-A2 (pregnancy-associated plasma protein A2) deficiency, caused by homozygous mutations in the PAPP-A2 gene results in a novel syndrome of significant growth failure. PAPP-A2 cleaves IGF binding proteins 3 and 5, thereby freeing IGF-I from its ternary complex and allowing it to become biologically active. We recently reported the first two families with PAPP-A2 mutations. Response to recombinant human IGF-I (rhIGF-1) in these patients is unknown.<p class="a...

Background: Familial isolated growth hormone deficiency (IGHD) type II is autosomal dominantly inherited and caused by splice-site mutations and nucleotide substitutions in the GH1 gene. The missense mutation R183H is a well-described genetic variant that causes familial IGHD type II. Individuals with this mutation have releasable GH stores, but GH secretion is severely reduced resulting in short stature.Objective and hypotheses: This study aimed to repo...

Background: Aggrecan (ACAN) is a proteoglycan found in the extracellular matrix of articular and growth plate cartilage. Animal studies have shown that mutations in the ACAN gene lead to premature hypertrophic chondrocyte maturation, causing accelerated cartilage ossification. Patients with ACAN deficiency present with dominantly inherited short stature, often with advanced skeletal maturation and premature growth cessation, as well as early-onset joint diseas...

Background: Bisphosphonates have been used for treatment of bone fragility disorders for over 25 years to increase bone mineral density (BMD). Anecdotally, bisphosphonate-treated Osteogenesis Imperfecta (OI) has a different trajectory to the natural history of untreated OI, with minimal published evidence to support this clinical observation.Aims: To describe functional outcomes of a cohort of adults with OI, stratified according to severity and treated ...

Summary: An 11 year old girl with poorly controlled type 1 diabetes mellitus (T1DM) presented with persistent lactic acidosis and transaminitis despite resolution of diabetic ketoacidosis (DKA), subsequently confirmed histologically to have glycogen hepatopathy (GH). This case describes a rare but known complication of poorly controlled DM and offers some novel insights in the management of GH.Clinical case: The patient had a history of poor compliance t...

A 20-year old lady with poorly controlled type 1 diabetes mellitus diagnosed since 9 years old, comorbidities of hyperlipidemia and steatohepatitis as well as a history of smoking, presented with an acute 2-day history of involuntary, writhing movements of her left upper and lower limbs. Physical examination confirmed left mild hemiparesis with hemichorea-athetosis. Emergent MRI brain demonstrated abnormal signal in the right caudate nucleus and lentiform nucleus (low T2W/FLAI...

We report three cases of neonatal diabetes from Kazakhstan, Almaty with the KCNJ11 gene mutation who were successfully switched from insulin to sulphonylurea treatment and 1 case of insulin (INS) gene mutation that presented as permanent insulin dependent neonatal diabetes.Case 1: An 1 month old girl presented with elevated glucose level, dehydation, ketoacidosis and was treated with Insulin. HbA1c at diagnosis was 10%. Heterozygous missense mut...