ESPE Abstracts

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...

Objectives: Vitamin D deficiency is an important health problem in pregnant women and their infants in sunny countries. The present study evaluated serum 25-hydroxyvitamin D3 (25(OH)D3) concentrations in pregnant women and in their newborns and determined the risk factors in LSES cities in Turkey.Methods: Ninety-seven pregnant women and their newborns were included in the study between December 2012 and February 2013. All of the pregnant women had irregu...

Background and aim: How gestational age and size at birth are related to the timing of puberty and the adult height of an individual is not well known. Children born small, either preterm or small for gestational age (SGA), are known to be shorter than their peers during childhood. Both adult height and pubertal timing depends on both genetical and environmental factors, have changed over time with broad individual variations. Previous studies have shown confl...

Objective: Spexin is a novel peptide implicated in food intake and satiety. Spexin levels are reduced in obese patients.Aim: To evaluate the associations of metabolic syndrome (metS) antecedents with serum spexin levels in obese adolescents.Setting: A university- based tertiary care centre.Patients and methods: Eighty consecutive obese adolescents aged 10-18 y and 80 healthy ...