ESPE Abstracts

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare mosaic disorder caused by somatic gain-of-function RAS mutations. It is characterized by segmental epidermal nevi and fibroblast growth factor-23 (FGF23) mediated hypophosphatemic rickets. These patients also have dysplastic cortical skeletal lesions. We describe an Emirati child with CSHS whose hypophosphatemic rickets and dysplastic skeletal lesions failed to heal due to poor adherence to conventional oral phospha...

Objectives: Trichorinophalangeal syndrome (TRPS) is a cause of syndromic short stature; and is characterized by typical dysmorphology, ectodermal dysplasia, and skeletal findings. There are two types of TRPS; TRPS-I caused by monoallelic pathogenic variants in the TRPS1 gene, and TRPS-II caused by whole gene deletion. TRPS-II; also called Langer-Giedion Syndrome (LGS), in which multiple exocytoses can be seen in addition to typical TRPS features due t...

Background: The aim of this study is to determine menstruating girls’ sectional characteristics and the frequency of the menstrual problems.Method: The study was done in randomly selected primary, junior and high schools at Kayseri Province between December 2014–March 2015. After obtaining the permits adolescent girls in 9–18 age groups were included in the study. Following preliminary information, informed consent forms and questionnaires...

Introduction: Juvenile Paget's Disease(JPD) is an extremely rare disease of bone characterized by progressive painful bone deformities, fractures and increased bone turnover. Findings also include deafness, loss of vision, vascular calcification and aneurysm. Here, we report two siblings presented with recurrent fractures and diagnosed as JPD by very high alkaline phosphatase levels and radiographic findings. A novel homozygous mutation in the TNFRSF11B g...

The weight of birth affects the weight status and fat distribution in the later period of life. It is suggested that both low and high birth weight pose a risk for cardiometabolic diseases. In this study, the effects of birth weight on body fat mass and body fat distribution parameters during childhood and adolescence period were evaluated.Method: In this cross-sectional study, 4581 children ages between 6-17 years at primary and secon...

Background: It is widely assumed that short stature can result in psychological, social, and physical problems. The validity and efficacy of GH in management of short stature is still debated.Aims: This study aimed to i) estimate the prevalence of short stature in preschool children (4–6 years), and determine the final diagnosis of abnormality based on different investigations, and ii) assess the impact of intervention for short stature among presch...

Aim: The pathophysiology of developing hypophosphatemia in children with diabetic ketoacidosis (DKA) has not been sufficiently elucidated. Fibroblast Growth Factor 23 (FGF23) is a hormone that causes phosphate excretion from the kidneys. The increase of FGF23 in children with DKA may explain the pathophysiology of hypophosphatemia in these children. The aim of our study was to investigate the effect of serum FGF23 on serum phosphorus level in children with DKA...

Background: Vitamin D deficiency (VDD) is common in the general pediatric population of the world. Some studies reported that low vitamin D levels with an increased risk of diabetes.Objective and hypotheses: VDD can be more common in children with type 1A diabetes (DM1A) than those with type 1B diabetes (DM1B). To evaluate 25OHD levels in children with newly diagnosed DM1A and DM1B patients and investigate any relation with clinical and laboratory data a...

Background: Van Wyk–Grumbach syndrome (VWGS) is characterized by breast development, uterine bleeding and multi-cystic ovaries in the presence of long-lasting primary hypothyroidism.Objective and hypotheses: The pathophysiology of VWGS involves a complex mechanism, which is at least partly mediated by the direct action of TSH and FSH receptors.Method: We present a girl with Down syndrome having typical feature...

Background: Endothelial dysfunction underlies lung and other organ complications developing in associated with diabetes. Endothelial dysfunction leads to an increase in cytokine levels and oxidative stress. Studies have shown that the endothelin plays significant roles in the development of diabetic complications.Objective and hypotheses: The aim of this study is to show the effect of a new mechanism on endothelin receptors in the physiopathology of diab...