ESPE Abstracts

Background: GH deficiency (GHD) is an endocrine condition, caused by problems arising in the pituitary gland that does not produce sufficient quantities of GH. GHD is treated by replacing GH with one daily injections. Recent studies suggested that GH could be involved in regulation of certain stem cell subset potential and function. However, the exact effects of GH therapy on biology of stem cells in paediatric patients were not studied in detail.Methods...

Background: In contrast to hypoglycaemia due to congenital hyperinsulinism, there are patients with a similar metabolic profile of hypoketotic hypoglycaemia, but low insulin levels and relatively low glucose requirements to maintain euglycaemia. So far, four patients with activating mutations in the insulin signal-transducing kinase AKT2 have been described, each also showing a syndromic phenotype including hemihypertrophy.Objective and hypotheses: We pr...

Objective: To determine the influence of adolescent girls with type 1 DM on circulating levels of adiponectin and to study the relation between adiponectin level with glycemic control and complication of diabetes.Patients and methods: The study included 40 female adolescent type 1 diabetic patients and 40 healthy volunteer of the same age and sex. Blood sample was taken for assessment of glycosylated haemoglobin, lipid profile and adiponectine. Urine sam...

Introduction: Resistance to thyroid hormones is defined as lack of response of peripheral tissues to triiodothyronine (T3) which is the active form of thyroid hormones. In general (85%) a mutation is detected in the thyroid hormone receptor β (THRB) gene and more rarely, the thyroid hormone receptor α (TRHA) gene.Case: A 4.7-year-old boy, was admitted to the pediatric endocrinology outpatient clinic of Akdeniz...

Children with early signs and symptoms of Type 1 Diabetes need to be diagnosed promptly, before they become acutely unwell with diabetic ketoacidosis (DKA). Early diagnosis and optimal management of established DKA is key to reducing morbidity and mortality. To follow the evidence based standards. To assess whether the newly diagnosed type 1 diabetes were in DKA at presentation or not. To assess compliance to guidelines on admission. As per retrospective cohort study, charts o...

Case report: Atypical presentation of adrenal insufficiency: 13 year old presented with vomiting (one day), lethargy two weeks. mild dehydration, vitals stable, generally healthy, examination unremarkable, medication nill, history of insect bite two weeks ago, no allergies, started on I. V maintenance fluids, investigations (blood) normal, the only abnormal was low soduim, normal glucose and potassium, soduim was 122 mol/l, repeated soduim was 119 after the maintain ace 0.9% n...

Congenital hyperinsulinism (CHI) is characterised by the dysregulation of insulin secretion leading to severe hyperinsulinaemic hypoglycaemia. Recent advances in molecular genetics have provided unique insights into understanding how insulin secretion becomes unregulated in CHI. Abnormalities in the genes ABCC8/KCNJ11 (encoding the two components SUR1/KIR6.2 of the pancreatic β-cell KATP channel respectively) is the most common genetic causes of CHI. Histologically there ...

I have chosen 3 manuscripts for my year book presentation on antenatal and neonatal endocrinology. The first manuscript describes the use of induced pluripotent stem cells (iPSCs) to study the genetic mechanisms of congenital hyperinsulinism (CHI). The derivation of iPSCs and their subsequent conversion to islet like clusters from a patient with diffuse CHI due to a homozygous mutation in the ABCC8 provides a unique opportunity to study the molecular basis of CHI and ...

Term male baby delivered by elctive c- section.On examination found to IUGR, hypotonic and microphallus less then 2 cms (stretched).Both testis were palpable. No other dysmorphic features noticed. Cranial ultrasound showed sub-ependymal cysts in the frontal region. Parents were concerned regarding his small penis. He was referred to physiotherapy for his low tone and had genetic and metabolic work up done for his persistent low tone. The testosterone levels were found to be lo...

Background: Subtle phenotypic differences have previously been described among children with varied genetic subtypes of Prader-Willi syndrome (PWS) – 15q11-q13 paternal microdeletion, maternal uniparental disomy (mUPD), and rare imprinting center defects. The MKRN3 gene, located on 15q11.2, is a master regulator of pubertal initiation and is a candidate gene for abnormal pubertal development in PWS.Objective and hy...