ESPE Abstracts

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: The International Congenital Adrenal Hyperplasia (CAH) Registry provides rich longitudinal data from CAH patients with 21 Hydroxylase deficiency. We estimated the average total causal effect of fludrocortisone on blood pressure in patients with CAH by modelling within a causal inference framework.Methods: We constructed a directed acyclic graph (DAG) with domain experts (using Dagitty.net) to establi...

Background: Alterations in blood pressure in treated CAH due to 21 hydroxylase deficiency is contentious, with studies reporting different effects. We used data from young adults entered into the I-CAH registry to assess the change in blood pressure readings recorded within patients over time.Methods: We used longitudinal mixed effects modelling (LMEM) in R to account for repeated measures in two levels within patients a...

Background: Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2. To date, more than forty different pathogenic variants in the CYP11B2 gene causing isolated aldosterone synthase deficiency have been identified. We report on a novel pathogenic CYP11B2 variant.Case report: The second child (male) of consanguineous, healthy parents, presented shortly after...

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...

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...

Background: The recommended capillary TSH cut-off level for neonatal screening for congenital hypothyroidism (CH) in the UK is 10 mIU/l. However several of the regional screening laboratories have adopted lower cut-off limits in order to increase detection sensitivity. There is now pressure to standardise the UK screening programme with universal adoption of the recommended cut-off. Scotland has been using a cut-off of 8 mIU/l since the adoption of AutoDELFIA TSH screening met...

Introduction: Rege et al. (2018) demonstrated that 11-keto-testosterone (11KT) is the dominant androgen in girls during adrenarche. Claahsen-van der Grinten et al. (2022) proposed C19 oxysteroids as a potential parameter for therapeutic control in congenital adrenal hyperplasia (CAH). Turcu et al. (2016) observed a significant elevation in C19 oxysteroids in patients with 21-hydroxylase deficiency (21OHD). Currently, C-19 oxysteroids...

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: Turner syndrome is a relatively common chromosomal abnormality affecting 1:2000 girls. Virilization can occur in girls with Turner syndrome which is in most cases associated with the presence of an Y chromosome. Mosaicism is found in 25% of the karyotypes, in 6% of those the Y chromosome is present. This could lead to development of androgen producing gonadoblastoma/dysgerminoma. Active screening to search for Y chromosomal material is included i...