ESPE Abstracts

Background: Obesity prevalence among children increased worldwide in last three decades. Childhood onset obesity is associated with increased mortality and morbidity related to cardiovascular diseases during adulthood. Dyslipidemia has a fundamental role in the pathogenesis of cardiovascular diseases.Objective and hypotheses: This study is designed to evaluate the prevalence and related factors of dyslipidemia among obese children and adolescent.<p c...

Background and aim: Childhood obesity is one of the most serious public health problem. Obesity-related complications such as hepatic steatosis or type 2 diabetes can now be monitored even during early childhood. The aim of the study was to examine the relationship between vitamin D levels and obesity with hepatosteatosis (HS) in children.Methods: A total of 128 children with obesity were included in this study. HS was diagnosed using ultrasonography. HS...

11 Beta Hydroxylase Deficiency and Gittelman Syndrome are two rare autosomal recessive diseases. Our patient, whose brother had 11 beta Hydroxylase Deficiency, was diagnosed at the antenatal period. We detected hypomagnesemia, hypokalemia, hypocalciuria and metabolic alkalosis at the age of 3 years and 8 months, after vomiting and diarrhea. In our patient, a homozygous mutation was detected in the SLC12A3 gene at the c.1049C>T (p. Ser350Leu) (rs7785585043) location. There i...

Background: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene can produce LCH. In this poster, we present three siblings with LCH based on the clinical and laboratory findings and the molecular diagnosis.Cases: A seven-year-old child was brought to our hospita...

Objective: Autoimmunity of the adrenal gland, also known as Addison’s disease, is characterised by cell mediated immune destruction of the adrenal cortex. We present a child with Addison’s disease who has severe hyponatraemia and normokalemia, which led to an inappropriately low index of suspicion initially at presentation.Case: A 12-year-old boy diagnosed with adrenal deficiency was admitted to hospital with 2 weeks of vomiting, fatigue and we...

Background: Alström syndrome is a rare genetic disorder characterized by retinal degeneration, hearing loss, early-onset obesity, type 2 diabetes, cardiomyopathy, systemic fibrosis and progressive multi-organ failure. Our aim is to present two siblings who were diagnosed in early childhood.Case presentation: Three years five months old female and her two years one month old sister admitted to paediatric neurology department due to lack of eye contac...

Objective: Type 0 glycogen storage disease (GSD0) is caused by deficiency of the hepatic isoform of glycogen synthase. Growth hormone deficiency in this disorder has not been reported.Case: A two-year old girl who had suffered from occasional morning convulsions was admitted to our clinic. Her length and body weight were measured as 80 cm (−2.4 S.D.) and 11.3 kg (−1.3 SD), respectively. Physical examination was unremarkable. Me...

Background: Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function. DBH deficiency is a congenital disorder; however, the diagnosis is not generally recognized until late childhood. In this report, we present a case with DBH deficiency leading to growth hormone deficiency.Case: A ten year old girl who has b...

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent and profound hypoglycemia in infants. There are two distinct histologic forms of CHI, diffuse and focal. The distinction between these forms is important in patients who fail medical therapy since surgical strategies may vary. Focal lesions occur due to paternally inherited recessive mutation in ABCC8 or KCJN11 genes with somatic loss of the maternal 11p15 region (paternal uniparental disomy). ...

Background: Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized by metaphyseal enchondroma-like bone lesions and dysplasia of the vertebrae. SPENCD with immune dysregulation (SPENCDI) describes the syndrome of combined immunodeficiency, autoimmunity and spondyloenchondrodysplasia caused by the mutations in the ACP5 gene on chromosome 19. Patients with SPENCDI and neurological manifestations including spasticity, developmental delay and cereb...