ESPE Abstracts

Aim: The objective of the study was to determine bone mineralisation density in Turner syndrome (TS) from DSD life cohort, and to analyse the trabecular (lumbar spine = LS) and cortical bone (femoral neck = FN) mineralisation.Materials and Methods: This study was part of the DSD-LIFE study, a cross-sectional clinical outcome study of the BMD of TS adult patients from paediatric cohorts. BMD of the LS and FN were ...

Introduction: Rapid-onset Obesity with Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation (ROHHAD) recently named ROHHAD-NeuroEndocrine Tumors (ROHHAD-NET) syndrome is a rare cause of obesity in children. The diagnosis is challenging and can easily be confused with other causes of obesity.Case Report: We report a case of a six-year-old boy, referred to our clinic for hypernatremia. Six months ago, he s...

Background: Rathke cleft cysts are benign, epithelium-lined intrasellar and/or suprasellar cysts believed to originate from remnants of the Rathke pouch. Although its prevalence in adults is rather high, Rathke cleft cysts are rare in children. Often they are asymptomatic findings, however depending on their size and localization they can present with a wide spectrum of symptoms.Objective and hypotheses: The aim of the study was to analyse the symptoms a...

Background: Adipose tissue is an important endocrine organ. Its secretion profile is robustly changed in the context of obesity fueling the development of comorbidities such as insulin resistance, diabetes mellitus type 2, and atherosclerosis. We have recently shown that the adipose tissue expression of the death ligand TNF-Related Apoptosis-Inducing Ligand TRAIL and its receptors is upregulated in obesity.Objective and Hypotheses: In this project, we in...

Background: Obesity is tightly associated with adipose tissue inflammation. Tumor necrosis factor-alpha (TNFα) has been identified as a key player in this inflammatory process and has been linked to the development of obesity-associated insulin resistance. Our group studies the involvement of TNF superfamily members in obesity-induced alterations in adipose tissue.Objective and hypotheses: Here, we aimed to identify the effects of the TNF superfamil...

Background: Ovarian tumors are rare in the pediatric age and are represented primarily by functional cysts and benign tumors, the most common is the mature teratoma.Objective and hypotheses: Assess clinical, radiological, etiological and scalable characteristics of ovarian tumors in the pediatric age.Method: Retrospective study of seven cases of ovarian tumors collected over a period of 20 years. All children received complete clin...

Background: Central precocious puberty (CPP) in girls is characterized by an activation of the hypothalamic–pituitary–ovarian (HPO) axis before 8 years of age. Given the gradual awakening of the GnRH pulse generator, a spectrum of presentations has been found among girls with premature sexual development. CPP are not easily distinguished from idiopathic precocious thelarche (PT) or other intermediate positions along this spectrum. The GnRH test is the gold standard t...

Background: Adrenal insufficiency in children is rare and potentially serious because of the risk of acute adrenal insufficiency. This complication is lethal in the absence of prompt and appropriate treatment. Aetiologies are dominated by the genetic causes.Objective and hypotheses: Report diagnostic circumstances,phenotypic forms and causes of adrenal insufficiency in children and adolescents.Method: This is a retrospective study ...

Introduction: The National Registry of Civil Status through circular 33 of February 24, 2015 instructed the guidelines for the allocation of a sex through an inscription on the Civil Registry of Birth for intersexual minors.Objective: To create clinical and medical awareness on the importance of making an accurate diagnosis of Congenital Adrenal Hyperplasia CAH in order to avoid adverse effects due the omission of the due diligence by violating of the pr...

Background: The increasing number of transgender adolescents presenting in early puberty requires to investigate the effects of long-term puberty suppression and gender-affirming hormones (GAH) on body composition and metabolism. Clinical studies have ethical and practical limitations. A preclinical mouse model may be helpful to gain mechanistic insights.Methods: Prepubertal (4week-old) female mice were treated with the ...