ESPE Abstracts

Obesity is a common public health problem. Secondary complications are increasing with the increase in the prevalence of obesity. Studies on the effect of obesity on the urinary system in children continue and are limited. In this study, it was aimed to evaluate the relationship between childhood obesity and lower urinary tract dysfunction (LUTD) with metabolic and anthropometric measures. 400 obese children between 6 and 18 years of age who had a body mass index ≥95 per...

Background: We aimed to assess whether or not anthropometric indices such as weight circumference (WC), waist/hip ratio (WHR), waist-height ratio (WHtR), and weight for height (W/H) are predictors for metabolic syndrome (MetS) among obese children and adolescents. We aimed to describe effects of gender and pubertal status on these anthropometric indices.Method: A total of 291 obese children and adolescents (160 girls and 131 boys, age range: 6–16 ye...

The aim of this study was to investigate the clinical and laboratory features of patients who received recombinant human growth hormone (rhGH) treatment and to investigate the factors that determine the response to rhGH treatment. The clinical features of children treated at least one year with rhGH were retrospectively analyzed. Patients were grouped according to diagnosis; isolated GH deficiency (IGHD), multiple pituitary hormone deficiency (MPHD), Turner s...

Background: Mutations in CYP21A2 are the most common cause of congenital adrenal hyperplasia (CAH). Even though disease linked mutations are rarely classified as founder, in this study, we describe a novel founder mutation, c.2T>C (p.M1?), inactivating the translation initiation codon.Objective and Hypotheses: We aimed to investigate genotype–phenotype correlation and population based origin of this novel mutation in CAH patients with 2...

Background: Wolcott–Rallison syndrome (WRS) which is characterized with permanent neonatal diabetes mellitus (PNDM), epiphyseal dysplasia, recurrent hepatitis and is caused by EIF2AK3 mutations.Objective and hypotheses: There is a possibility of a variant form of WRS, not caused by EIF2AK3 mutation.Method: Case 1: She was born at term from consanguineous parents. Family history was unremarkable. She had been ...

Background: Raine syndrome (RS) also known as lethal osteosclerotic bone dysplasia, is a rare autosomal recessive bone disorder. Most of patients with RS die within the first days or weeks of life due to pulmonary hypoplasia. The causative gene FAm20C is located on chromosome 7p22.3. FAm20C is one of the genes that regulate phosphate production. Here, we present a case of RS with hypophosphatemic rickets and a new mutation in FAm2</s...

Objective: Congenital isolated thyrotropin (TSH) deficiency is a rare condition due to autosomal recessive defects in TSHβ, TBL1X, IGSF1, TRHR genes. There are a few patients described with TSHβ mutations to date. These patients display the typical manifestations of severe untreated congenital hypothyroidism. Most patients are unrecognized, even in newborns screening settings due to unelevated TSH levels, which results in severe growth fail...

Background: An optimal vitamin D status is important for the growth and development of bones in children and adolescents. The prevalence of vitamin D deficiency is still high, even in low-latitude and industrialized countries, and vitamin D deficiency in childhood is reemerging as major public health issue.Objectives: To determine the frequencies of 25-hydroxyvitamin D (25(OH)D) deficiency and insufficiency in children and adolescents.<p class="abste...

Introduction: Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous mutation in CYP19A1.Case report: A 4-month-old girl was referred due to cliteromegaly. Her mother had developed acne, hair loss,...

Objective: Subclinical hypothyroidism (SH) prevalence in the paediatric population is reported between 1.7 and 9.5%. Results of the adult studies on SH showed that long term SH had negative effects on atherosclerosis, dyslipidaemia, insulin resistance and cognitive functions. The decision about treatment of SH in paediatric patients is still a matter of debate. None of the consensus statements published about the management of SH addressed the issue of SH in the paediatric pop...