ESPE Abstracts

Introduction: Cortisol secretion is circadian-driven and plays a significant role in sleep quality. In children with congenital adrenal hyperplasia (CAH) hydrocortisone is the preferred treatment. Hydrocortisone has a short half-life producing alternating hyper- and hypocortisolemia, a non-physiologic cortisol profile, likely disrupting sleep. However, minimal literature exists on sleep health in children with CAH.Objective:</str...

Background: Bone growth and mineralization during childhood are now recognized as important for bone health in adulthood, leading to renewed interest in identifying modifiable factors that impact bone mineral density (BMD) in childhood. Emerging data suggest that duration of breastfeeding may affect BMD in later childhood and adult life. However, such data are sparse and inconsistent.Objectives: This study examined the relationship betwe...

Objectives: Abdominal fat has been strongly linked to increased cardiometabolic risk and impaired glucose regulation in adults. Owing to the lack of detailed body composition phenotyping in most previous child cohort studies, the temporal links between abdominal fat accumulation and impaired glucose regulation have not been well established. In this study, we evaluated the associations of abdominal fat assessed by MRI at early infancy (≤21 days after birth) and at 4.5 ye...

Background: Growth patterns in infancy and early childhood have been linked to risks of obesity and cardiometabolic disorders in adulthood. Body fat partitioning, particularly increased fat accumulation at ectopic sites, has been strongly associated with cardiometabolic disorders. However, the lack of precise body composition measures in prior longitudinal birth-cohort studies has made it difficult to ascertain if early growth patterns could result in consolidation of distinct...

Introduction: Genetic alterations within the cAMP/PKA pathway, including the genes GNAS, PDE11A, PDE8, PRKAR1A/B, and PRKACA, result in a spectrum of adrenocortical disorders. To date, somatic PRKACA variants and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While variants within the PRKAR1A ge...

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: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...

Background: Studying patients with rare Mendelian diabetes has highlighted molecular mechanisms regulating β-cell pathophysiology. Previous, experimental studies have shown that Class IIa histone deacetylases (HDAC4, 5, 7, and 9) modulate mammalian pancreatic endocrine cell differentiation, function and finally glucose homeostasis.Methods: We performed exome sequencing in one adolescent boy with non-autoimmune di...

Background: Mutations in genes involved in insulin secretion or regulation of β cell identity cause both persistent neonatal diabetes (PND) and hyperinsulinemic hypoglycemia of infancy (HHI) pinpointing shared pathogenic mechanisms. KCNQ1 encodes a potassium channel protein, Kv7.1, which is a voltage-gated potassium channel expressed in cardiac tissue, pancreas, inner ear neurons, and other tissues. Variants in or nearby to KCNQ1 were linked t...

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa net...