ESPE Abstracts

Objectives: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is included in the Dutch Newborn Screening (NBS) since 2002. NBS for CAH consists of a 17-hydroxyprogesterone (17-OHP) measurement in dried blood spots (DBS) with gestational age-adjusted cutoffs. Previously, a second heel prick was performed in newborns with inconclusive results to reduce false-positives. In October 2021, 21-deoxycortisol (21-DOCL) was introduced as a s...

Background: Patients with congenital adrenal hyperplasia (CAH) are at risk of developing an unfavorable cardiovascular risk (CVR) profile. Data on the CVR profile in pediatric CAH patients are scarce.Objective and hypotheses: To evaluate the CVR profile of pediatric CAH patients.Method: A cross-sectional study in CAH patients (8–16 years) was performed (n=27). Blood was taken to evaluate several circulating CVR marker...

Background: Congenital Adrenal Hyperplasia (CAH) is a rare group of congenital adrenal diseases with an estimated prevalence of about ten newly diagnosed patients in the Netherlands per year. Morbidity and mortality improved significantly in the last 20 years mainly due to improvement of multidisciplinary care and education of patients and parents. In the last years the role of the nurse practitioner (NP) as case manager in the care and follow up of patients with chronic disea...

Background: Congenital adrenal hyperplasia (CAH) patients are clinically often less severely affected by cortisol deficiency than anticipated from their enzymatic defect.Objective and hypotheses: We hypothesize that adrenal steroid hormone precursors that accumulate in untreated or poorly controlled CAH have glucocorticoid activity and partially compensate for cortisol deficiency. We aimed to determine the in vitro binding, translocation and tra...

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and elevated ACTH secretion, resulting in excess androgen production. This exposure to excess androgens contributes to advanced skeletal maturation and reduced growth in puberty. Data from the I-CAH registry were analyzed to identify growth-related characteristics of children and adolescents with...

Background: Late identification of male patients with congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency (21OHD) can increase the risk of developing a benign tumor near the mediastinum testes called testicular adrenal rest tumors (TART), that can cause infertility. However, these long-term consequences of 21OHD have not yet been studied in Indonesia.Objective: This study aims to elucidate the prevalenc...

Background: Access to transgender healthcare for adolescents varies largely across Europe (and beyond), depending on the regulations and healthcare system of the country where they live. In some countries, obtaining transgender healthcare can be almost impossible. Specifically, the age at which puberty suppression (PS) and subsequent gender-affirming hormones (GAH) are offered can vary widely. Medical treatment for adolescents with gender incongruence (GI) is ...

Background: Biochemical ratios of precursor-to-product urinary steroid metabolites have been proposed as surrogate markers of steroidogenic enzyme activity to aid the differential diagnosis of inborn disorders of steroidogenesis. Using ratios rather than total amounts facilitates analysis of single spot urine samples, more convenient than 24-h urine collections for young children. Previous studies examining the utility of these biochemical ratios have been lim...

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...