ESPE Abstracts

Background: Heterogeneity in reported outcomes limits the ability to compare results of studies evaluating hypospadias surgery.Objective: To identify a core outcome set (COS), a minimal number of defined outcomes, to be routinely measured and reported in all trials across the age span following hypospadias surgery.Materials and Methods: A study protocol was drafted and the study re...

Introduction: Neck Circumference (NC) has been pointed out as an important indicator in the evaluation of overweight and may be useful to determine the level of obesity and metabolic alterations.Objective: To verify the relationship between the NC and the lipid profile in adolescents with overweight or obesity.Methods: A cross-sectional study with adolescents between 10 and 19 years old, of both sexes attended at the Endocrinology ...

Introduction: Action4Diabetes (A4D) is a non-profit UK organisation formed in 2016 that is making sustainable and scalable progress to provide quality Type 1 diabetes (T1D) healthcare in Southeast Asia (SEA). A4D provides comprehensive partnership programmes through a Memorandum of Understanding (MOU) signed with the governments in SEA that guarantees ongoing supplies of free insulin, blood glucose testing, HbA1c tests and hospital emergency funds in low-middl...

Background: Hypospadias in boys may be associated with a lack of androgen exposure during the masculinisation programming window. As testosterone has effects on the vasculature, we assessed whether boys with hypospadias show any evidence of vascular dysfunction.Methods: Excess foreskin tissue was obtained from boys undergoing hypospadias repair (cases) or circumcision (controls) and small arteries dissected from this tissue. Vascular contractility was as...

Background: Disorders of Sex Development (DSD) comprise several phenotypes due to dysfunction in genes involved in human sexual determination and differentiation. The most frequent aetiologies among 46,XY DSD are androgen insensitivity syndrome and 5-alpha-reductase type 2 deficiency due mutations in AR and SRD5A2 genes, respectively.Objective and hypotheses: The purpose of this study was to investigate mutations in AR and ...

Introduction: Hypogonadotropic hypogonadism (HH) is a rare condition, where a definitive diagnosis is often hard to reach.Objectives: To describe the clinical, biochemical and genetic findings in cases with suspected HH in the West of Scotland who were referred for genetic analysis between 2016 and 2020.Methods: Information was collected on clinical assessment including family hist...

Background: Hypogonadism has been associated with cardiovascular disease. However, little is known about the cardiovascular impact of hypogonadism during development. Using hypospadias as a surrogate of hypogonadism, we investigated whether hypospadias is associated with vascular dysfunction during childhood and whether it is a risk factor for adult cardiovascular disease.Methods: Our human study spanned molecular mechan...

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

Introduction: Gonadectomy may be indicated in people with differences or disorders of sex development (DSD). Based on historical data from the International-DSD (I-DSD) Registry that showed considerable practice variation, this I-DSD care quality improvement project seeks to determine, through prospective surveillance, the frequency of gonadectomy in individuals with DSD internationally.Methods: All existing I-DSD centre...

Background: Several previous publications have documented the usefulness of Nifedipine for treating hyperinsulinaemic hypoglycaemia (HI). These reports include transient and persistent forms of HI, with and without known genetics, used in monotherapy or in combination with other drugs, and demonstrate various outcomes.Objective and hypotheses: To systematically trial Nifedipine in children with known HI mutations and diazoxide unresponsive, assessing gly...