ESPE Abstracts

Background: Hypospadias in boys may be associated with a lack of androgen exposure during the masculinisation programming window. As testosterone has effects on the vasculature, we assessed whether boys with hypospadias show any evidence of vascular dysfunction.Methods: Excess foreskin tissue was obtained from boys undergoing hypospadias repair (cases) or circumcision (controls) and small arteries dissected from this tissue. Vascular contractility was as...

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...

Background: Low bone mineral density (BMD) has been found in up to 50% of adolescents and adults with Prader-Willi syndrome (PWS). High fracture risk has been described in adult PWS patients. However, the mechanism/s of low BMD in PWS have not been clarified. These patients also display high BMI-SDS that prompted us to evaluate the levels of LIGHTTNFSF14, a cytokine involved in pathological bone remodeling and obesity.Objecti...

Background: Low bone mineral density (BMD) is found in up to 50% of adolescents and adults with Prader-Willi syndrome (PWS). High fracture risk has been described in adult PWS patients. This bone fragility could be due to inadequate gonadal hormones levels during pubertal development, and to relative growth hormone insufficiency during childhood and adolescence. However, the mechanism/s of low BMD in PWS have not been clarified.Objective and hypotheses: ...

Introduction: Prader-Willi Syndrome (PWS) is a complex genetic condition associated with feeding difficulties, hypotonia, developmental delay in infancy; hyperphagia leading to extreme obesity, growth failure and behavioral problems in childhood. Coeliac disease (CD), is an autoimmune disease characterized by gluten intolerance and a variety of symptoms most commonly diarrhea or constipation and failure to thrive. In PWS the challenge is to optimize growth while avoiding obesi...

Background: Anti-Müllerian hormone (AMH) inhibits the in utero growth of the Müllerian structures in female fetuses. In neonates with suspected disorders of sexual development (DSDs), the presence of testicular tissues and functioning Sertoli cells can be investigated by testing for serum AMH concentration.Objective: To evaluate the performance of two new AMH assays in a hospital laboratory.Method: The technical performan...

Background: Craniopharyngiomas are the commonest pituitary tumours of childhood. Though benign histologically, their localisation and invasive tendency can cause significant neuroendocrine morbidity and late mortality.Objective and hypotheses: To prospectively determine risk factors for neuroendocrine morbidity by longitudinal survival analysis.Method: All children with craniopharyngioma newly presenting to our quaternary centre be...

Background: Newborn (NB) screening programs show a wide variation in congenital hypothyroidism (CH) incidence along the years.Objective and hypotheses: To describe CH incidence, etiology, associated malformations and Down Syndrome (DS) in children detected by our NB Screening Program. To search differences between permanent CH (PCH) and transient forms (TCH).Method: We analyzed NB with positive screening results referred between A...

Background: There is increasing evidence that body composition in early life has both immediate and long-term influence on health. Air-displacement plethysmography creates the opportunity to study the effect of prenatal and early postnatal factors on neonatal body composition. Prenatal maternal factors, such as pre-pregnancy BMI and gestational weight gain, might also influence neonatal body composition.Objective and Hypotheses: We hypothesized that newb...

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...