hrp0086p1-p738 | Pituitary and Neuroendocrinology P1 | ESPE2016

Oxytocin Deficiency is Associated with Hyperphagia and Weight Gain in Hypothalamic and Common Obesity: A First-in-Humans Proof-of-Concept Study

Gan Hoong-Wei , Leeson Clare , Aitkenhead Helen , Spoudeas Helen , Martinez-Barbera Juan Pedro , Dattani Mehul

Background: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology has been attributed to hyperphagia and hyperinsulinaemia. The wider roles of oxytocin (OXT) in regulating appetite and weight have recently emerged in animal and human studies, but there is no human evidence that hypo-oxytocinaemia contributes to weight gain.Hypothesis: Hypo-oxytocina...

hrp0082fclb2 | Late Breaking Abstracts | ESPE2014

Sonic Hedgehog is Required for Cell Specification of Rathke’s Pouch Progenitors During Normal Development and is Over-Expressed in Adamantinomatous Craniopharyngioma

Carreno Gabriela , Andoniadou Cynthia , Heywood Wendy , Mills Kevin , Dattani Mehul , Martinez-Barbera Juan Pedro

Background: Mouse studies have demonstrated the necessity of Sonic Hedgehog (SHH) for normal proliferation of Rathke’s pouch (RP) precursors. However, the possible function of SHH in pituitary cell specification remains to be assessed. Additionally, evidence suggests that SHH may be relevant in human adamantinomatous craniopharyngioma (ACP), a histologically benign, but clinically aggressive childhood tumour associated with high morbidity.Objective ...

hrp0095rfc8.6 | Diabetes and Insulin | ESPE2022

Short-term effects of elexacaftor/tezacaftor/ivacaftor modulator therapy on glucose tolerance in young people with cystic fibrosis

Korten Insa , Kieninger Elisabeth , Krueger Linn , Bullo Marina , E. Flück Christa , Latzin Philipp , Casaulta Carmen , BoettcherClaudia

Background: CFRD is a unique subtype of diabetes mellitus, distinct from type 1 and type 2, harbouring β-cell dysfunction and β-cell loss and insulin resistance. Modulator therapies directly target the underlying defect of CF, modulating or correcting the function of the CFTR gene (mutation-specific). Few studies investigated the effect of modulators on CFRD and glucose metabolism. We performed an observational study on the short-term effects of the ...

hrp0095p2-89 | Diabetes and Insulin | ESPE2022

Design, certification and evaluation of an Insulin Infusion Therapy Care and Education Program (PAETII) in children/adolescents in a Pediatric Unit

J. Chueca Maria , Gabari Mercedes , Burillo Elisabeth , Berrade Sara , Herrero Sara , Francisco Laura , Lopez de Dicastillo Ana , Andres Carlos

A structured program of therapeutic education is essential to achieve a good result from the use of technology in the treatment of diabetes.Objectives: Facilitate knowledge, skills and aptitudes to patients and their families in therapy. Promote the capacity for self-management and adherence to treatment. Provide ongoing support to patients. Improve clinical outcomes, health status and quality of life.Metho...

hrp0095p2-175 | Growth and Syndromes | ESPE2022

Central Hypothyroidism as a manifestation of X linked IGSF1 Deficiency Syndrome: a case report

Righi Beatrice , Rosato Simonetta , Trimarchi Gabriele , Cattini Umberto , De Fanti Alessandro , Garavelli Livia , Elisabeth Street Maria , Sartori Chiara

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

hrp0092p1-46 | Fat, Metabolism and Obesity | ESPE2019

How to Recognize Underlying Somatic Causes of Paediatric Obesity? Performance of the Diagnostic Recommendations of the Endocrine Society Guideline and Suggestions for Improvement

Abawi Ozair , Kleinendorst Lotte , van der Voorn Bibian , Brandsma Annelies , van Rossum Elisabeth , van Haelst Mieke , van den Akker Erica

Background: Underlying causes of obesity are thought to be rare even in specialized paediatric endocrinology clinics. However, evidence is limited. The Endocrine Society (ES) guideline for paediatric obesity makes the following diagnostic recommendations: endocrine evaluation in presence of reduced growth velocity, evaluation of cerebral obesity in presence of CNS injury, re-evaluation of drug choice in patients using antipsychotics. Genetic testing is recomme...

hrp0082p1-d3-84 | Diabetes (2) | ESPE2014

Children and Adolescents with Type 1 Diabetes have Higher Plasma Visfatin Levels than Healthy Controls

Hontzsch Julia , Jasser-Nitsche Hildegard , Grillitsch Marlene , Suppan Elisabeth , Weinhandl Gudrun , Riedl Regina , Barowitsch Christine , Borkenstein Martin , Frohlich-Reiterer Elke

Background: The aim of this study was to examine plasma visfatin levels in pediatric patients with type 1 diabetes (T1D). Visfatin, a novel adipokine, is predominantly secreted by visceral adipose tissue and seems to have insulin-mimetic effects. It has not been studied in children and adolescents with type 1 diabetes (T1D) yet.Objectives: We studied 124 subjects; 62 patients with T1D: 31 girls, mean age 13.7±3.7 years; mean duration of diabetes 5.9...

hrp0097p1-53 | Fat, Metabolism and Obesity | ESPE2023

First results from the ongoing Med4Youth European study: comparing Mediterranean diet with a Low-Fat Diet for adolescents with obesity

Petraroli Maddalena , Shulhai Anna-Mariia , Messina Giulia , Rosi Alice , Bertolotti Elena , Maria Roberta Esposito Susanna , Scazzina Francesca , Elisabeth Street Maria

Obesity is increasing, and the related complications are well known. Clinical Trials related with specific diets are currently lacking in paediatrics. There is an increasing interest in Mediterranean diet (MD). The Med4Youth European study* has enrolled 240, 13- to 16-year-old subjects with a BMI above the 90th percentile(WHO curves) in a multicenter randomized controlled trial (Italy, Spain and Portugal) to evaluate the effects of MD. We present the data relative to the 80 su...

hrp0098fc12.4 | Thyroid | ESPE2024

Docosahexaenoic acid (DHA) is reduced and could be protective against Hashimoto’s thyroiditis in children with Down syndrome: a cross-sectional study

Cannalire Giuseppe , Bellini Melissa , Gerevini Sofia , Marie Louise Syren Eva , Turolo Stefano , Agostoni Carlo , Elisabeth Street Maria , Biasucci Giacomo

Inflammation is a known feature of Down syndrome (DS) and is caused by a dysregulation between pro and anti-inflammatory cytokines. Hashimoto's thyroiditis (HT) is characterised by a slowly developing persistent inflammation of the thyroid gland which frequently leads to hypothyroidism. In DS children, HT is the most common autoimmune disease ad its prevalence has been reported to be more elevated than that generally seen in age-matched patients without DS: 34% vs 1.3%, r...

hrp0098p1-175 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Current Practice of Managing Hypogonadotropic Hypogonadism in Male Infants during Minipuberty – an International Survey

Laurer Elisabeth , Rohayem Julia , Heger Sabine , Hoegler Wolfgang , Castro Sebastian , Rey Rodolfo , Nordenström Anna , Howard Sasha

The activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first six months of life in boys marks the period of “mini-puberty”. It is characterized by a surge of gonadotropins, testosterone, and an increase of Sertoli cells and germ cells, crucial for future reproductive capacity. Boys with severe congenital hypogonadotropic hypogonadism (CHH) often present with undescended testes and micropenis and lack mini-puberty, leading to impaired responses t...