ESPE Abstracts

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...

Bardet-Biedl syndrome (BBS) is a rare and multisystemic disorder characterized by rod-cone dystrophy, post-axial polydactyly, learning difficulties, renal abnormalities, obesity and hypogonadism. The disorder is genetically heterogeneous. To date, 21 genes present on different chromosomes have been mapped. The most common genes are BBS1 (locus 11q13) and BBS10 (locus 12q21.2). We aimed to report two family with five affected children with typical clinical features of Bardet-Bi...

Background: There is currently an inadequate number of studies on nodule and malignancy development in children and adolescents with Hashimoto thyroiditis (HT).The aim of our study was to determine the rate of thyroid nodules and the nodule malignancy rate in our pediatric HT patients.Material and methods: Patients who were diagnosed with HT between 2004 and 2013 were included in the study. The HT diagnosis was made with the elevation of anti-TPO and ant...

Background: Thalassemia major is a hemoglobin disorder characterized by regular transfusion requirement. Despite the regular transfusions and advanced iron chelation protocols, endocrine complications have been reported as the frequent morbidities of the disease.Objective and hypotheses: The aim of the study was to i) investigate the prevalence of endocrine complications, ii) to examine the relationship between endocrine complications and metabolic param...

Introduction: Type 1 Diabetes Mellitus (T1DM) is a chronic disease in children and adolescents.There are studies showing that quality of life is affected in T1DM. In our study, we aimed to evaluate the effect of diabetes knowledge levels on quality of life and metabolic status.Methods: Patients aged >10 years who were diagnosed with diabetes mellitus in our clinic and who were given diabetes education and who had reg...

The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. Herein we report five patients with 1α-hydroxylase deficiencies. We studied six patients from three families who diagnosed as 1α-hydroxylase deficiency clinically. All patients had hypocalcemia, hypophosphatemia, hyperphosphatasemia, elevated serum PTH, normal or high v...

Introduction: Childhood obesity is an important public health problem with increasing prevalence. Type 2 diabetes (T2DM) is strongly associated with obesity and metabolic syndrome. Adressing obesity and insulin resistance by drug treatment represents a rational strategy for the prevention of T2DM.Aim: The aim of our study was to evaluate the one year metformin treatment’s long-term effectiveness in children and adolescent.Meth...

Background: Nutritional rickets continues to be an important health care problem. Its incidence has decreased in our country following the free vitamin D distribution that started in 2005 but it continues to stay on the agenda as a preventable disorder.Aim: Our aim was to evaluate patients diagnosed with nutritional rickets following the vitamin D supplementation program.Method: We evaluated patients diagnosed with nutritional rick...

Background: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in patients with a normal female phenotype and 46, XX karyotype. Various anomalies may accompany MRKH. The number of cases with accompanying hyperandrogenemia is limited.Case presentation: We describe a combination of Mullerian agenesis and hyperandrogenemia (total testosterone level 0.85 ng/ml) in a patient presenting with primary amenorrhea and mild hir...

Introduction and objective: Atherosclerosis is one of the most important causes of obesity-related diseases. The clinical symptoms usually begin in adulthood, but the pathological changes in vascular structure could be observed in a much earlier period. Carotid intima–media thickness (cIMK) which is one of the noninvasive marker of early atherosclerotic changes, has been shown to be significantly increased in obese children. Subepicardial adipose tissue (SAT) is a compone...