ESPE Abstracts

Due to the increase in prevalence of childhood obesity, more obese children are referred to the endocrinologist for the hypothalamus-hypophysis-adrenal axis assessment. The circadian rhythm (CR) of cortisol in saliva (SAF) may constitute a non-invasive, first line test to exclude hypercortisolism on obese children.Aim: To evaluate possible disturbances of CR of SAF in obese children with clinical signs of hypercortisolism.<p class="a...

Background: The etiological investigation of central precocious puberty (CPP) has improved with more precise clinical approach, neuroimaging, and genetic studies. CPP can be caused by congenital or acquired conditions, with or without central nervous system (CNS) lesions. More recently, genetic and epigenetic disorders have been identified in children with CPP, previously classified as idiopathic.Objective: To update the...

Background: Soluble CD163 (sCD163) is shed from the cell surface into the circulation as a specific marker of macrophage activation. Macrophages are involved in low-grade inflammatory states such as obesity.Objective and hypotheses: To investigate the relationships between circulating sCD163 and metabolic parameters in asymptomatic prepubertal children.Method: A population of 236 school-aged Caucasian children (111 girls and 125 bo...

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) was created in collaboration with the European Reference Network on Rare Bone Diseases (ERN BOND) and the European Reference Network on Rare Endocrine Conditions (Endo-ERN) to support the needs of healthcare providers, patients and researchers by providing high-quality registries. The Core Registry collects a set of Core Data Elements as well as longitudinal patient and clin...

Background: Puberty is characterised by important changes of brain networks. The glutamate system plays a main role in modulating the onset of puberty as shown for NMDA receptor agonists. However, the underlying mechanisms are poorly understood. Metabotropic mGlu5 receptors (mGluR5) are tightly linked to NMDA receptors. The effect of mGluR5 blockade on neurohormonal mechanisms in puberty initiation were not studied yet.Objective and hypotheses: To invest...

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

Background: Prader–Willi syndrome (PWS) results from loss of paternally imprinted genes from the 15q11–13 region and causes hypotonia with weight faltering in infancy, followed later by obesity which is classically attributed to hyperphagia.Objective and hypotheses: To determine, where possible, the age at onset of unwanted weight gain (as opposed to actual obesity) in children with PWS attending a specialist clinic.Metho...

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease that regulates IGF-1 availability, causes postnatal growth failure and changes in bone size and density in humans and mice. The present study aimed to determine the effects of daily administration (from PND5 to PND35) of recombinant murine (rm) PAPP-A2, in comparison to rmGH and rmIGF1, on mouse auxology and bone microarchitecture in homozygous Pappa2 knock-out (ko/ko) mice of both sexes. Hormone treatm...

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...

Background: Bilateral testicular regression (BTR) is characterized by the absence of both testicles in a newborn male or shortly thereafter, and presenting as bilateral cryptorchidism with undetectable AMH levels and the absence of Müllerian structures on pelvic ultrasound. Depending on when the regression occurs during fetal development, the condition can be associated with a micropenis. Few studies have explored the etiology and long-term outcome of BTR...