ESPE Abstracts

Induced overexpression of defined transcription factors has been shown to have a directing effect on the differentiation of embryonic stem cells (ESCs) into specific cell types. Nevertheless, protocols promoting coordinated self-assembly of differentiated cells into distinct morphological units with functional properties reminiscent of organs and tissues in vivo are still very sparse. Our group recently reported efficient rescue of hypothyroidism in athyroid mice tran...

Background: Inappropriate management of illness/stress, accidental or deliberate insulin omission are some of the causes of Diabetes ketoacidosis (DKA) in patients with established diabetes. During illness, patients with type 1 diabetes are advised to monitor for hyperglycaemia and ketosis, maintain fluid intake and if required, to administer supplemental insulin. Previous studies have confirmed that comprehensive diabetes self- management education (DSME) programs on manageme...

Introduction: Dyslipidemia secondary to obesity is a risk factor related to cardiovascular disease events, however a pathological conventional lipid profile (CLP) is infrequently found in obese children. The objective of our study is to evaluate the advanced lipoprotein profile (ALP) and its relationship with cardiac changes, metabolic syndrome and inflammatory markers in a population of morbidly obese adolescents with normal CLP and without type 2 diabetes me...

Introduction: Multiple endocrine neoplasia 2B (MEN2B) is a rare cancer syndrome primarily caused by the M918T (95%) and A883F (<5%) germline mutations in the REarranged during Transfection (RET) proto-oncogene. Aggressive and early onset thyroid medullary carcinoma is the hallmark of the disease. Cure rates in M918T carriers who had thyroidectomy before and after 1 year of age were 83% and 15% respectively. More t...

Background: DEND syndrome is characterized by developmental delay, epilepsy, and neonatal diabetes mellitus (NDM) due to mutations in KCNJ11 and ABCC8 genes. Intermediate DEND (iDEND) syndrome is a rare mild form with mild motor, speech or cognitive delay and an absence of epilepsy. Improvement in glycemic control and neurologic symptoms has been reported in three cases with iDEND syndrome.Objective and hypotheses: To present the result...

Background: The prevalence of childhood type 1 diabetes mellitus (T1DM) is increasing and the age at presentation is falling. Late presentation with diabetic ketoacidosis (DKA) is more common in younger children who are at increased risk of cerebral oedema.Objective and hypotheses: To describe the clinical presentation of new onset T1DM to our centre and report time to diagnosis, incidence of DKA, requirement for intensive care and complications.<p c...

Background: Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant inherited disease caused by heterozygous inactivating mutations in the glucokinase (GCK) gene. It mostly presents with mild fasting hyperglycaemia. MODY2 accounts for 2%–5% of all diabetes cases. It is treated with diet only, and complications are extremely rare. We presented here a family with MODY2 caused by a novel heterozygous p.E51*(c.151.G>T) mutation of the GCK gene.<p ...

Leptin receptor deficiency is a rare genetic disorder that affects the body’s ability to regulate appetite and weight. For patients and their families, the disorder seriously disrupts daily life, however, little is published about this impact. We here report the experiences of a 10.5-year-old girl with leptin receptor deficiency and her family. The diagnosis of this rare genetic obesity had a deep impact on the life of the child and her family. It led to a better underst...

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...

Background: Achondroplasia is the commonest type of skeletal dysplasia with an incidence of 1 in 20,000 and is due to recurrent and dominantly transmitted, activating mutations in Fibroblast Growth Factor Receptor 3 (FGFR3). Complications during infancy include foramen magnum stenosis and hydrocephalus which may lead to neurological morbidity and sudden unexplained mortality. Early detection and appropriate neurosurgical management can prevent these complications. How...