ESPE Abstracts

Background: Calcium homeostasis is primarily regulated by vitamin D. In the absence of the active hormone or a functional receptor, bones are inadequately mineralized, leading to the development of rickets. Vitamin D-dependent rickets type 2 (VDDR2) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene.Case Report: A 12-months-old girl was transported to the local hospital ED with a three-minute ...

Objective: to study the features of the adipocytokine status and vitamin D status in large for gestational age (LGA) newborns.Materials and Methods: 348 full-term newborns were examined. Three groups of LGA newborns were identified: taking into account the presence of mother’s type 1 diabetes mellitus (DM) (Gr1, n=58, body weight (BW) – 4225 [4000; 4580] g), excess BW or obesity (Gr3, n=65, ...

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by mutations in PHEX, leading to elevated FGF23 levels, hypophosphatemia and chronic renal phosphate wasting. Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of XLH. Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: ...

Study of response to vitamin D replacemet in North Korean refugee children and Korean childrenMyung Hee Chung, MD., Ph.DDaegu Medical Center, Daegu Metropolitan city, KoreaJung Hup Song, MD., Ph.DKyungpook National university hosptal,Occupational Medicine, Public Health Dept.,Daegu, KoreaPurpose: It is well known that obesity and ...

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a regulator of IGF-1 availability, causes postnatal growth failure in humans and mice, at least in part through dysregulation of bone size and density. The present study aimed to determine the effects of Pappa2 gene deletion and the response to recombinant murine IGF-1 (rmIGF-1) on femur microstructure and composition. Hydroxyapatite-related crystallography and ionic substitutions were analyzed by X-ray p...

Aim of the study: Assessment of the incidence of ovarian functional disorders correlated with thyroid disorders appreciated clinically, functional, and echostructural in a group of diabetic female teenagers according to 25-(OH)- vitamin D serum levels.Method: A group of 31 patients with diabetes mellitus and vitamin D deficiency (mean age 16.3 ± 1.3) was studied compared to a control group (43 teenagers) with diabet...

Introduction: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in adult women. Syndrome is characterised by hiperandrogenism, oligo/amenorrhoea and polycystic ovary morphology in ultrasound. Clinical signs of the syndrome usually start already during adolescent years. Non-classic congenital adrenal hyperplasia (NCAH), caused by several mutations in CYP21A2 (6p21.3) gene, is the most common differential diagnosis for girls presented with symptoms of P...

Bacground and objective: Idiopathic infantile hypercalcemia is one of rare diseases characterizing hypercalcemia in infancy. Renal phosphate absorption in proximal tubules plays a very important role in the phosphate and calcium homeostasis. SLC34A1 is known a key regulator of renal phosphate reabsorption. SLC34A1 gene mutation is one of very uncommon causes of idiopathic infantile hypercalcemia. We have experienced a case of idiopathic infantile hypercalcemia caused by a homo...

Background: Accumulating evidence suggests that decreased 25-hydroxyvitamin [25(OH)D] concentrations are associated with components of the metabolic syndrome.Objective: The aim of our study was to investigate the effect of vitamin D supplementation on metabolic syndrome parameters in obese children and adolescents.Patients and methods: Two hundred thirty two (n=232) obese children and adolescents aged [mean ±S....

Background: Vitamin D status in children with isolated GHD has been analyzed in few studies with controversial results. The aim of the study was to assess vitamin D status in children with idiopathic GHD in North and Central Greece.Materials and methods: 128 children (M/F: 76/61, mean age 9.5 (S.D.±3.5 years) with isolated GHD were compared with 65 controls (M/F: 46/3, mean age 9.3 (S.D.±3.2 years). Children were d...