ESPE Abstracts

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...

Background: Correct classification of diabetes mellitus in children and adolescents is essential for appropriate treatment.Case report: A 17 year old female adolescent was referred to our clinic due to hyperglycemia. She complained of dizziness and nausea. Her blood pressure was 160 /100 mmHg; she had hyperglycemia ( 208 mg/dl), a glycosuria and a ketonuria without ketoacidosis. Some members of the family were on insulin...

Introduction: Morphological characteristics of the glucose concentration curve during an oral glucose tolerance test (OGTT) may reflect differences in insulin secretion and sensitivity. Whether the shape of the glucose curve and time to peak glucose concentration can be used as indicators of beta cell function and markers of type 2 diabetes risk in obese adolecents is still uncertain.Aims/hypothesis: The purpose of this cross-sectional study was to asses...

Background: We compared continuous glucose monitoring (CGMS) (Medtronic) to oral glucose tolerance test (OGTT) and HbA1c in the follow-up of glycemic abnormality in an adolescent girl with morbid obesity and glycemic abnormalities before and after 2 months of partial gastrectomy. This 16-year-old adolescent girl presented with obesity (weight 98 kg, height 158 cm, BMI=39.2 kg/m2), acanthosis nigricans and nocturnal polyuria and polydipsia. Trials to reduce weight th...

Introduction: NDM is a rare disease diagnosed in the first 12 months of life. It is either transient or permanent. Early recognition of mutation in KCNJ11 and ABCC8, which account for approximately 40% of NDM, is essential to consider oral sulfonylurea for responsiveness mutations.Aim: To study the efficacy and safety of oral sulfonylurea in a long-term follow-up (15 years) for the first successful switch from insulin to...

Background: Retinol binding protein 4 (RBP4) and adiponectin are known to be related with insulin resistance and type 2 diabetes.Objective and hypotheses: This study was aimed at investigating (RBP4) and adiponectin secretion in obese Korean children and adolescents with newly diagnosed type 2 diabetes (T2DM).Method: Nine obese children and adolescents with newly diagnosed T2DM (DM group) and ten obese age-matched subjects without ...

Background: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures and osteoporosis. Body composition in TS is characterised by increased body fat (FM) and decreased lean body mass (LBM), even with a normal BMI. Oestrogen replacement therapy for attaining and preserving normal bone mass is necessary in most TS girls. There is a potential role of age-specific estrogen doses, with lower doses used in the early puberty and higher do...

Background: β-thalassemia major (β-TM) is the most common genetically determined chronic hemolytic anemia. Studies reported that patients with β-thalassemia are zinc deficient due to increased utilization of zinc by oxidative stress, increased urinary zinc excretion and sequestration in the liver.The development of abnormal glucose tolerance in β-TM is associated with alteration in oxidant-antioxidant status. Zinc plays an essen...

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...

Objective: Hyperthyroidism is rarely seen in the childhood. In this study, we evaluated the reference sign and symptoms and following laboratory and treatment results of the hyperthyroidism cases.Method: Data of the 78 patients were extracted from hospital records retrospectively. Patients’ height, weight, BMI and laboratory results at the time of diagnosis are recorded. Antithyroid drug doses at the 2th, 6th, 12th months after diagnoses are compare...