ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by a defect in any of the enzymatic steps of adrenal steroidogenesis. It occurs due to mutations in genes that encode enzymes involved in the synthesis of cortisol from cholesterol. The most common cause is 21-hydroxylase deficiency, with 11-beta hydroxylase, 3-beta hydroxysteroid dehydrogenase, 17-alpha hydroxylase and POR deficiency being among rarer causes.Objec...

Background: Turner syndrome is one of the most common chromosomal disorders and is seen in 1:2500 female live births. The disease manifests with various clinical features and can be classified according to karyotype as monosomy, mosaicism, numeric, and structural abnormalities.Objective and hypotheses: Patients with Turner syndrome have complicated with various manifestations congenital or acquired. In this study we aimed to emphasise the importance of a...

Background: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population specific growth charts for TS.Objective and hypotheses: Considering national and ethnic differences, we undertook this multicentered collaborative study to construct growth charts and reference values for height, weight, and BMI from birth to adulthood for spontaneous growth of Turkish girls w...

Background: Turner syndrome (TS) can manifest with various clinical features depending on the karyotype and the genetic background of affected subjects.Objective and hypotheses: The aim of this study was to evaluate growth parameters from birth to adulthood in girls with TS in a cross-sectional study.Method: A total of 842 patients, with an age of diagnosis ranging from birth to 18 years followed-up between 1984 and 2014, from 35 d...