ESPE Abstracts

Introduction: In the literature, there are reports about nephrocalcinosis (NC), hypercalcemia, and hypercalciuria risk in patients with congenital adrenal hyperplasia (CAH). The prevalence and background of nephrocalcinosis is not established. Nephrocalcinosis refers to diffuse calcification in the renal parenchyma, generally in renal pyramids.Aim of the study: The study aimed to evaluate the prevalence of nephrocalcinos...

Introduction: With an overall prevalence of 1:200 to 1:1,000, NCCAH due to 21-hydroxylase deficiency is an important cause of premature pubarche in 5 to 20% of cases. Clitoromegaly is present in up to 11% of adolescents with NCCAH but is not regularly reported in infancy and childhood. Affected children may exhibit advanced bone age, rapid linear growth, and tall stature. Genetically, several compound heterozygous mutations of the CYP21A2 gene are known, as we...

Background: Triple A syndrome (AAAS, OMIM#231550) is a very rare inherited disease characterized by the association of chronic adrenal insufficiency, achalasia, alacrima and central and peripheral neurological disorders. It is caused by mutations in the AAAS gene which encodes the nuclear pore complex scaffolding protein ALADIN. The relative prevalence and genotype of AAAS in the Maghreb countries has not been ascertained.Objecti...

Purpose: ACTH-independent bilateral adrenal hyperplasia is a rare cause of pediatric Cushing's syndrome (CS). Our objective was to describe the features of pediatric ACTH-independent CS and to compare groups defined by etiology.Methods: We conducted a retrospective observational study of patients aged 0–18 years at management in 1992–2022 for ACTH-independent CS in any of three Paris university pediatric...

Introduction: Patients with classic congenital adrenal hyperplasia (CAH) require glucocorticoid (GC) therapy to replace cortisol insufficiency and reduce excess adrenal androgens, usually necessitating supraphysiologic GC doses. CAHtalog™, developed in partnership with CARES Foundation using the PicnicHealth platform, is a real-world US patient registry that characterizes the natural history of classic CAH. This study explored changes in health states ba...

Background: There are multiple indications where evaluation of the Hypothalamic-pituitary-adrenal (HPA) axis in neonates may be considered e.g. hypoglycaemia, hypotension, conjugated hyperbilirubinemia; however permanent neonatal adrenal insufficiency (AI) is rare. Interpretation of results can be challenging due to a paucity of normative reference data in this population. This risks overdiagnosis and unnecessary treatment with corticosteroids leading to the a...

Background: P450 oxidoreductase (POR) is a co-factor critical for the function of type 2 microsomal cytochrome P450 enzymes. POR deficiency (PORD) results in a rare form of congenital adrenal hyperplasia, with combined attenuation of CYP21A2 and CYP17A1 steroidogenic enzymes. It is characterised by combined deficiencies of glucocorticoids and androgens postnatally. Differences in sex development can arise in both sexes due to antenatal activation of the altern...

Background: Electrolyte imbalance is often encountered in hospitalized patients, with hyponatremia being the most frequent and potentially the most diverse in regards to its etiology, with endocrine causes representing a high proportion. However, the prevalence of hyponatremia in the general pediatric population is still unknown, as the available studies have focused on admitted patients in acute conditions.Aim: The aim ...