ESPE Abstracts

Even today, the majority of families are caught completely unprepared by the diagnosis of diabetes in their child. The "bad news" hits them like a bolt from the blue and calls into question the future plans of parents and children. The first talk with the paediatric diabetologist, in which the diagnosis is communicated and the therapy is roughly outlined, sets the course for the acceptance of diabetes in the family and the long-term trusting cooperation with the diab...

Background: Dyslipidemia increases the frequency and severity of micro- and macro-vascular complications of type 1 diabetes.Objective and hypotheses: The present study aims to determine the prevalence of dyslipidemia and its association with clinical and laboratory findings in diabetic children and adolescents.Methods: The study included 202 children and adolescents with type 1 diabetes. Demographic data and laboratory findings wer...

Background: There is wide geographic variation in the frequency of diabetic ketoacidosis (DKA) at onset of diabetes from ~15–70% in Europe and North America.Objective and hypotheses: To evaluate the frequency of DKA at the onset of type 1 diabetes (T1D) in the paediatric population seen in the Department of Pediatric Diabetology of Turin (Italy) from 1/1/2008 to 31/12/2013.Method: Data (venous pH and HCO3, season at the onset)...

Background: The diagnosis of GHD in children is based on auxological, biochemical, neuro-radiological, and genetic tests. Biochemical tests include evaluation of stimulated GH secretion and baseline IGF-1 determination. Although IGF-1 is the most reliable indicator of GH action, its value should always be interpreted in conjunction with other clinical and biochemical parameters. Since IGF-1 has good specificity (about 90%), but low sensitivity (about 70%), nor...

Introduction: Thyroid hormone resistance (THR) is a syndrome characterized by decreased response to thyroid hormones in target tissues. Thyroid hormone receptor resistance alpha (THRRα) is an autosomal dominant inherited disease that is characterized by near-normal thyroid function tests (TFT) and tissue-specific hypothyroidism, and is likely to be missed in practice.Case: 10-month-old male patient was referred to ...

Introduction: Congenital generalized lipodystrophies (CGL); autosomal recessive disorders characterized by dyslipidemia and almost complete absence of body fat associated with insulin resistance. It develops due to mutations in AGPAT2, BSCL2, CAV1, PTRF, PCYT1A and PPAR, genes.CGL type 4 results from PTRF-CAVIN gene mutation. Unlike classical CGL, myopathy, flat and skeletal muscle hypertrophy, heart rhythm disorders (sudden death) and skeletal abnormalities a...

Beckwith-Wiedemann syndrome (BWS) is a congenital tumor-predisposition syndrome of which around 70% develops because of the methylation defects in the imprinted genes at chromosome 11p15.5. KCNQ1OT1 hypomethylation is the most common underlying genetic aberration in sporadic the BWS, accounting for 50% of the sporadic cases but confers the least tumor risk. We present a 5 month-old girl who presented with an excessive weight gain, cushingoid face, arrested gro...

Introduction: Heterozygous inactivating mutations of the CaSR gene (CaSR) generally result in mild, asymptomatic hypercalcemia in the familial hypocalcuric hypercalcemia syndrome. Homozygous inactivating CaSR mutations end up with neonatal severe hyperparathyroidism. Calcimimetics are drugs that interact with the transmembrane part of CaSR and make the receptor more sensitive to calcium. Cinacalcet, a type II calcimimetic, suppresses PTH levels and increases r...

Aim: Pseudoacondroplasia is a short extremity dwarfism characterized by lifelong arthralgia and early onset osteoarthritis. At birth there is a normal height and face appearance. At the beginning of walking, first symptom is a swaying walking nature. Typically, at second year of life, short height becomes apparent and leads to a disproportionate short-limb appearance. In childhood, joint pain in the broad joints especially in the lower extremities is common. Degenerative joint...

Introduction: In children with Type 1 diabetes, the insulin dose administered to, fasting blood sugar, the amount of food,contents and glycemic index can affect the postprandial blood sugar. Despite the intensive insulin therapy and carbohydrate (CHO) counting the expected improvements in glycemic control is not observed. Compared to other fast affecting analogues, Insulin glulisine has a faster onset of effect and a shorter duration. It has previously been reported that, in c...