ESPE Abstracts

Objectives: Hypercalcaemia, hypothyroidism, and early puberty are the most common endocrine disorders defined in Williams-Beuren syndrome (WBS). Here, endocrine evaluation and long-term follow-up of seven patients with WBS are given.Methods: Data were obtained from patient’s medical records. WBS was diagnosed by demonstration of the deletion on chromosome 7 by using FISH method (7q11.23). OGTT were performed in four patients. Thyroid ultrasonography...

Background: Generally, diabetic nephropathy onsets and progresses within 5–10 years after DM onset resulting in chronic kidney disease (CKD) causing death in every 4–5th patient with type I DM. Molecular-genetic studies of endogenous/genetic CKD risk factors are of high relevance in understanding of pathogenetic mechanisms underlying formation of nephrosclerosis, and in improvement of interventions.Objective and hypotheses: To assess renal func...

Background: Pre- and postnatal growth retardation of unknown pathogenesis is a common clinical feature in patients with Williams-Beuren syndrome (WBS). However, growth hormone deficiency (GHD) has not been considered a major cause of growth retardation.Case reports: We report two female patients with confirmed WBS who had defective GH secretion in response to two provocative tests and low IGF-I level and their growth response to GH therapy for 9 years. T...

Background: Type 1 diabetes mellitus (T1DM) is an autoimmune and inflammatory process and vitamin D (VD) is thought to reduce inflammation and prevent autoimmune destruction. Studies have shown that VD has an effect on insulin secretion and sensitivity in rats. And it has been shown that adult T2DM with normal levels of VD have decreased insulin requirements. Two prior studies in Turkey looked at the relationship between VD levels and daily insulin requirement in paediatric pa...

Objective and hypotheses: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Method: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years. GFR wa...

Aim: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Materials and methods: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years; 95% CI: 13.3...

Since CGM-based outcomes that are increasingly being used in clinical pediatric diabetes research, this study was aimed at gathering normative sensor data in healthy, non-diabetic children using the recently approved DexCom G6 system. In this multicenter study, healthy, non-diabetic children and adolescents (age 7 to <18 years, BMI between 5th and 85th percentile, and HbA1c <5.7%) were included. Each participant wore a blinded DexCom G6 for approx. 10 days and kept a d...

Background:Calcium-sensing receptors (CaSR) located on parathyroid glands and kidneys act to regulate serum calcium levels. Inherited hypocalciuric hypercalcaemia and autosomal dominant hypercalciuric hypocalcaemia are due to inactivating and activating CaSR mutations respectively. We present the immediate and medium term postoperative clinical course of the first paediatric patient with hypercalciuric hypocalcaemia managed with a simultaneous parathyroid and ...

Background: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Method: Markers of bone metabolism were evaluated in 15 children (9M/6F) undergoing BPT for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX), alkaline phosphatase (AL...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...