ESPE Abstracts

Introduction: Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) have specific plasma and urinary steroid patterns, with 11-oxygenatedC19 steroids established as key adrenal-specific androgens. Monitoring glucocorticoid (GC) replacement remains a challenge in the absence of reliable biomarkers.Aim: To reassess the urinary steroid profile of children with CAH in relation to plasma ...

Introduction: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare, autosomal disorder characterized by deficiency of cortisol and oftentimes aldosterone, elevated adrenocorticotropic hormone (ACTH), and excess androgen production. In a phase 2 study of adolescents with classic 21OHD, 14 days of treatment with the corticotropin-releasing factor type 1 receptor (CRF1) antagonist, crinecerfont, led to median percent red...

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...

Introduction: Management of children with adrenal disorders such as congenital adrenal hyperplasia involves thorough clinical monitoring, including measurements of plasma renin concentrations (PRC) and ACTH. However, sex- and age-related reference intervals (RIs) for PRC and ACTH using novel immunoassays are needed.Aim: To evaluate circulating concentrations of renin and ACTH in children and adolescents from the general ...

Introduction: The most common non-metabolic complication of insulin pump therapy is set occlusion, and the literature on factors associated with occlusion is limited. This study aims to investigate the factors influencing set occlusion.Methods: A total of 52 patients with type 1 diabetes using insulin pumps were included in the study. A 36-item questionnaire related to set occlusion was administered to the healthcare per...

Objectives: Hyperphagia and severe obesity may result from impaired melanocortin-4 receptor (MC4R) signaling due to rare biallelic variants in POMC or PCSK1 (proopiomelanocortin [POMC] deficiency) or LEPR (leptin receptor [LEPR] deficiency), Bardet-Biedl syndrome (BBS) or acquired hypothalamic obesity (HO). Previously, setmelanotide in patients aged 2-17 years was well tolerated and improved weight-related measures and hunger severit...

Introduction: Euvolemic hyponatremia is a typical feature of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Excessive secretion of antidiuretic hormone (ADH) leads to activation of the type 2 vasopressin receptor (AVPR2) in the kidneys, which plays a role in concentrating urine. Etiologies of SIADH include cranial surgery, intracranial malignancy, meningitis-encephalitis, cerebral hemorrhage, other cerebral pathologies, pulmonary path...

Klinefelter Syndrome (KS) affects an estimated 1 in 500-750 male births, yet over 50% of cases remain undiagnosed. Initially characterized as a condition with post-pubertal gonadal failure, KS is now recognized to involve numerous associated signs, symptoms, and comorbidities, underscoring the need for a multidisciplinary care approach. However, the clinical care of people with KS is variable and is rarely supported by good evidence. To better understand the natural history an...

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...