ESPE Abstracts

Background/aims: Several studies demonstrated rapid growth during the first year of life in infants with congenital adrenal hyperplasia (CAH) which has a considerable effect on final adult height. Whether decreased height potential is caused by inadequate suppression of adrenal androgens, excess steroid therapy or salt wasting itself is a matter of debate. Thus, we aimed to analyze growth pattern in infants with CAH during first year of life and the effect of therapy on those ...

Introduction: Osteogenesis Imperfecta (OI) is a group of rare hereditary collagen disorders. Vertebral compression fractures and vertebral deformities are well-known complications of OI. Intravenous zoledronic acid is widely used to improve the bone mineral density in children with OI. This study aimed at assessment of the changes in vertebral compression and shape in children who received regular zoledronic acid infusions.Method...

Background: Growth Hormone (GH) therapy has a positive effect on many parameters including metabolic and physiologic functions as well as its effect on growth. It has also been shown that GH therapy exerts a significant effect on cardiac morphology and function as evidenced by echocardiographic findings.Aim: To investigate left and right ventricle (LV, RV) diastolic function by Tissue Doppler imaging (TDI) in pre-pubertal growth hormone deficient (GHD) c...

Background: Controversial data on ghrelin and leptin concentrations in patients with growth hormone deficiency (GHD) have been published. Little has addressed the correlation between Ghrelin and leptin with cardiac functions in patients with GHD.Aim: To investigate the effect of one year Growth hormone (GH) therapy on serum levels of ghrelin and leptin in children with GHD and to study their correlations with cardiac functions and dimensions in patients ...

Background: The etiology of bone disease in thalassemic patients is multifactorial. Factors such as hormonal deficiency (especially gonadal failure), bone marrow expansion, increased iron stores, desferioxamine toxicity, calcium, and vitamin D deficiency seem to have a serious impact on impaired bone metabolism in this disease.Objectives: To estimate the frequency of calcium homeostasis abnormalities in adolescent thalassemic patients, and to investigate...

Background: α-klotho is a transmembrane protein which can be cleaved and act as a circulating hormone. Since low α-klotho levels were found in organic GH deficiency (GHD) and high levels in acromegaly, an interaction between α-klotho, GH and linear growth has been suggested.Objective and hypotheses: We investigated the role of α-klotho protein as a reliable marker of GH secretion in short children and the factors influencing its secre...

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

Aim: Recommendations for replacement glucocorticoids in CAH suggest a dose per body surface area (BSA) of glucocorticoids of 10-15mg/m2/day to maintain a 17-OH Progesterone (17OHP) level of 12-36 nmol/l across all ages. We used longitudinal analysis to assess whether biomarkers and dose of hydrocortisone varied with age in children within the I-CAH registry .Method: This retrospective multi-centre study, inclu...

Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarke...