ESPE Abstracts

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

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...

Aims: Historical I-CAH data shows considerable variation in the management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in infancy despite existence of several guidelines. Using the I-CAH registry we analysed contemporary early infancy natural history data, creating benchmarks as part of continuous quality improvement.Methods: Of 136 infants born in 2018-2023 and treated for 21-OHD CAH withi...

Background: Due to the rarity of Paediatric Cushing’s disease (CD) there is limited data on the long-term consequences of treatment.Objective and hypotheses: We assessed recurrence, anterior pituitary function and psychiatric disorders in a group of paediatric CD patients treated in a single centre.Method: Retrospective review of 20 patients with CD, mean age 11.75 years (5.74–17.8), managed in our centre between 1986 and...

Background: A virus initially considered benign in this age group, SARS-COV-2 has recently been associated with Pediatric Multisystemic Inflammatory Syndrome (PIMS), temporarily associated with COVID-19, a syndrome whose diagnostic determination has a vital relevance since it imposes unfavorable outcomes. This study aims to describe the sociodemographic characteristics of PIMS in Brazil and the factors associated with death by this syndrome.<p class="abste...

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...

Introduction: Data on BP in children with classic congenital adrenal hyperplasia (CAH) is inconsistent.Aim: To assess the trend in BP throughout childhood using data from the International CAH registry and compare this to normative data from the American Academy of Paediatrics (AAP).Method: This retrospective multi-centre study included 37 centres from 20 countries. BP data was ana...

Background: There is paucity of information regarding etiology and clinical profile of hypopituitarism from populations with high rates of consanguineous marriage like Sudan. We report the first data on etiological factors and clinical profiles of children with hypopituitarism from Sudan. Methodology: This study was a descriptive, hospital based, retrospective study carried out in two major pediatric endocrinology centers in Sudan (Khartoum state) from January...