ESPE Abstracts

Introduction: DKA is one of the most common pediatric emergencies. Hypertriglyceridemia and acute pancreatitis are infrequent complications of DKA. We present a 9-year-old female with new-onset DKA who presented with acute pancreatitis and hypertriglyceridemia and resolved on follow-up.Case presentation: A 9-year-old female, previously healthy, non-obese, presented to the hospital with breathing difficulty, abdominal pai...

Background: Adipose tissue acts as an endocrine organ, secreting biologically active molecules in response to external stimuli or lipid overloading. These adipose tissue-derived signaling molecules include adipokines such as leptin, adiponectin and resistin (4). On the other hand, ghrelin is the hunger hormone and an endogenous growth hormone secretagogue.Objective and hypotheses: This study aimed to investigate the relation between weight gain and serum...

Background: The exact mechanisms on growth are not fully eluciated, but they involve insulin resistance, fetal hyperleptinemia, hypothalamic changes. The adipose tissue-derived signaling molecules include adipokines such as leptin, adiponectin and resistin. On the other hand, ghrelin is the hunger hormone and an endogenous growth hormone secretagogue.Objective and hypotheses: This study aimed to investigate the relation between growth and serum insulin, ...

Keywords: Hypertriglyceridemia; Familial Chylomicronemia Syndrome; GemfibrozilBackground: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease affecting lipoprotein metabolism. The condition is characterized by hypertriglyceridemia, which may predispose patients to acute pancreatitis. FCS is estimated to occur in 1 in 1 - 2 million individuals [1] and can be diagnosed at any age, affecting all ge...

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...

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...