ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...

Introduction: VDDR II is an autosomal recessive disorder caused by a defect in the vitamin D receptor gene located on chromosome 12q12–q14. Thus far, 13 mutations have been identified. It is characterized by hypocalcemia, secondary hyperparathyroidism, and early onset severe rickets. Here we report a case of a severe form of rickets associated with alopecia.The Case: This 23-month-old boy was born at term to consang...

Introduction: Diabetic Ketoacidosis (DKA) is one of the acute complications of type 1 diabetes. It is a life-threatening condition that varies in severity and prognosis from patient to another. In Egypt, there is no available data about the socio-demographic characteristics as well as the DKA severity determinants among childrenObjective: 1. To identify demographic, clinical and laboratory variables of pediatric patients diagnosed with DKA at Suez Canal ...

Introduction: Controversy still exists about the effect of GH treatment on linear growth and weight gain (WG) in children with ISS.Aim: To study linear growth and weight gain in children with ISS treated with GH vs those not treated in comparison with treated children with GHD.Methodology: We conducted a longitudinal controlled study on 78 children presented to a pediatric clinic with short stature...

Introduction: A multicenter clinical trial in the US showed that underweight small for gestation (SGA) children responded to GH treatment like non-underweight SGA children. However, data on GH response in short underweight children with the normal birth size is not studied well.Aim: To measure growth response to GH therapy in underweight children versus short normal-weight children with idiopathic short stature (ISS) bor...

ISS is a condition in which the height of the individual is more than 2SD below the corresponding mean height for a given age, sex, and population, in whom no identifiable disorder is present. At presentation, some of these children have relatively low IGF-I levels which theoretically can affect their response to GH therapy. The question is: does GH treatment of these children improve their linear growth compared to no treatment?Aim: We ...

Background/aims: Primary IGF1 deficiency (IGFD)’ is defined by low levels of IGF1 without a concomitant impairment in GH secretion in the absence of secondary cause. The aims of this study were to evaluate the prevalence of non-GH deficient IGFD in prepubertal children with isolated short stature (SS) and to describe their response to GH therapy.Methods: This retrospective study included all children with isolated S...

In ISS is a condition with a height is >2SD below the corresponding mean for age, sex, and population. Thyroid abnormalities reported during GH therapy in GH deficient (GHD) children but not well studied in ISS children on GH therapy.Aim: To investigate effects of GH therapy on TF in a group of euthyroid children with ISS in comparison with ISS group not receiving GH therapy and GHD group on GH therapy.Material...