ESPE Abstracts

Background: Gonadotropin independent precocious puberty (GIPP) is caused by a heterogenous group of disorders. With the exception of congenital adrenal hyperplasia (CAH), disorders causing GIPP are uncommon, and there are no studies evaluating the etiologic distribution of GIPP in a large cohort.Objective and hypotheses: To find out the relative frequencies of each etiological group in patients with non-CAH GIPP and also to evaluate the clinical and labo...

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...

Introduction: Prader-Willi syndrome (PWS) is a genetic condition characterized by a complex hypothalamic dysregulation of the growth hormone/insulin-like growth factor (GH/IGF) axis, short stature, obesity, reduced muscle mass and impaired quality of life. The risk of obstructive sleep apnea (OSA), central hypoventilation (CHV) and sleep-disordered breathing (SDB) are the major causes of morbidity and mortality in these patients....

Aim: Recommendations for replacement glucocorticoids in CAH suggest a dose per body surface area (BSA) of glucocorticoids of 10-15mg/m2/day to maintain a 17-OH Progesterone (17OHP) level of 12-36 nmol/l across all ages. We used longitudinal analysis to assess whether biomarkers and dose of hydrocortisone varied with age in children within the I-CAH registry .Method: This retrospective multi-centre study, inclu...

Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarke...

Hypophosphatasia is characterized by defective mineralization of bone and/or teeth in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. Although the disease spectrum is a continuum, six clinical forms are usually recognized based on age at diagnosis and severity of features: Perinatal (severe)...

Background and hypotheses: Urinary C-peptide creatinine ratio (UCPCR) is a new, non-invasive, economical test recommended in differential diagnoses of maturity-onset diabetes of the young (MODY). There are a few studies on this topic. UCPCR values were determined as >0.2 and >0.7 nmol/mmol with a high specificity and sensitivity in differential diagnosis in the previous two studies, the values were evaluated in only three MODY types (HNF1A/HNF4A/GCK-MODY). We investiga...

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...

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: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compare it ...