ESPE Abstracts

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...

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...

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: Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this study is to investigate QOL in a large European cohort of men with KS and associate QOL with socioeconomic status, prevalence of somatic disease and mental illness, testosterone supplementation and age of diagnosis.<p class=...

DSD-LIFE is a comprehensive clinical outcome study investigating medical, surgical, psychosocial, and ethical issues to improve treatment and care of patients with the different diagnoses included in the umbrella term disorders/differences of sex development (DSD). The multidisciplinary DSD-LIFE consortium consists of 15 experienced European scientists in the areas endocrinology, psychology, surgery, gynaecology, urology, and ethics. In 2013 the study protocol and the online d...

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: Congenital adrenal hyperplasia (CAH) is the most common genetic condition in the spectrum of differences of sex development (DSD). Surgery in DSD is a controversial topic and there is no consensus if to perform surgery, how to perform surgery, and when to perform surgery. The current study was designed to evaluate the current practice in CAH related surgical practice in girls.Patients and Methods: All cases...

Disorders or Differences of sex development (DSD) are a heterogeneous group of congenital conditions, involving variations of chromosomal, gonadal, or anatomical development. Diagnosis is based on clinical, biochemical, imaging and genetic evaluation. In recent years knowledge about genetic causes has increased, mainly due to improved genetic techniques. In this study we investigated the yield of exome sequencing in our patients with DSD. Patients and methods: Genetic i...

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.Objective: This study aimed to evaluate unfavorable changes in cardiovascu...