ESPE Abstracts

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...

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...

Objectives: HPP is a multisystem disorder caused by ALPL variants that lead to ALP deficiency and excessive inorganic pyrophosphate, which inhibits mineralization of bones and teeth. A range of symptoms is associated with HPP inherited in an autosomal dominant manner that can manifest at any stage of life, making diagnosis difficult. The traditional method of classifying HPP into different types based on the onset of symptoms (prenatal benign, perinat...

Background: Obesity and overweight are important disturbances, considering their consequences, especially in children. Diet composition is an important factor involved in weight management.Objective and hypotheses: The aim of this study was to analyse the food pyramid and dietary patterns of obese children.Method: An observational study was conducted targeting obese children from Romania. The study included 63 children, age 3–...

Background: Data on FGF23-related Hypophosphatemic rickets (HR)/osteomalacia in GCC are sparse. This observational registry aims to collect data on the treatment, disease burden, progression, and long-term outcomes among patients with FGF23-related HR/osteomalacia in GCC, effectiveness and safety of treatments, quality of life and healthcare resource utilization.Methods: This multicenter registry aims to enroll 200 patie...

Introduction: Leptin, an adipokine secreted mainly by adipose tissue, is a regulator of energy balance acting through central mechanisms on the hypothalamus. However, leptin has many functions regulating e.g., immune system and reproduction. Leptin exerts its biological effects through its receptor, the expression of which has been demonstrated in several tissues. There are several leptin receptor isoforms, but activation of only one of them, the long form, re...

Background: The growth and IGF1 responses to GH treatment show a large variation across children with idiopathic short stature (ISS). Compliance and GH regimens are important determinants. The d3 variant of the GH receptor (GHR) is a significant genetic predictor. The role of individual epigenetics had not been studied. The IGF1 locus is an attractive candidate where CG methylation could influence GH action.Objectives: To study GH effects on a) IGF1 gene...

Background: ICSI is an assisted reproduction technique (ART) mainly used to overcome male infertility. Nowadays, ICSI is employed frequently due to its high success rate, despite it being highly invasive (i.e. epigenetic risk). Recent studies in ART offspring show a higher incidence of cardio-metabolic risk than in naturally-conceived (NC) controls. Thus, in our prior untargeted metabolomic study between ICSI and NC prepubertal girls, we demonstrated insulin resistance in the ...

Background: Diabetic ketoacidosis is a common complication of Type 1 diabetes Mellitus (T1DM). Unfortunately, medical errors are not uncommon during management of DKA leading to significant morbidity and mortality. Junior doctors/residents are usually the clinicians who initiate the management of DKA. There are many studies conducted to assess the knowledge of junior doctors, residents, and medical students in management of DKA in many countries including Bahr...

Background: Growth hormone deficiency (GHD) is one of the main endocrine disorders causing short stature. It may be due to isolated growth hormone deficiency (IGHD) or associated with multiple pituitary hormone deficiency (MPHD). The aim of this study was evaluation of anthropometric factors before and after growth hormone (GH) therapy.Patients and method: This is a historical cohort study. The diagnosis of GHD in childr...