hrp0097p1-123 | Growth and Syndromes | ESPE2023

Aromatase Inhibitors May Increase the Risk of Cardiometabolic Complications in Adolescent Boys

Besci Özge , Damla Akçura Yağmur , Yüksek Acinikli Kübra , Akın Kağızmanlı Gözde , Demir Korcan , Böber Ece , Kır Mustafa , Abacı Ayhan

Introduction: Aromatase inhibitors (AIs) are increasingly used in children and adolescents to augment adult height. Given the potential risks of these drugs in women with breast cancer, detailed cardiovascular examinations in adolescents using these treatments are needed to ensure their safety in the pediatric group. The aim of this study was to investigate the effects AIs on cardiac morphology, functions and their relation to several metabolic parameters in a...

hrp0097lb5 | Late Breaking | ESPE2023

Clinical phenotyping of patients with genetic obesity

S. Welling Mila , Mohseni Mostafa , E.H. Meeusen Renate , R. Boon Mariëtte , J. de Groot Cornelis , M. van Haelst Mieke , A. Visser Jenny , L.T. van den Akker Erica , F.C. van Rossum Elisabeth

Introduction: In rare cases of obesity, genetic defects lead to hyperphagia and severe early-onset obesity. Genetic testing in patients with a suspected genetic obesity phenotype is important, as it can lead to patient-tailored treatment advice. For children, the Endocrine Society (ES) recommends genetic testing in children with early-onset of obesity (<5 years) and hyperphagia. It is unclear whether these recommendations can also be used in adult obesity c...

hrp0098fc3.1 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2024

The Effects of Blue Light Exposure on the Epiphyseal Plate and IGF1 - IGFBP3 Expression in Rats

Kılınç Uğurlu Aylin , Dayanır Duygu , Take Kaplanoğlu Gülnur , Mürşide Demirel Ayşe , Gülbahar Özlem , Saadet Deveci Bulut Tuba , Döğer Esra , Çamurdan M.Orhun , Bideci Aysun

Introduction: The impact of increased exposure to blue light (BL) from infancy over the past decade on growth and epiphyseal plate maturation is not well understood. This study aims to experimentally investigate the effects of BL exposure and duration during the prepubertal period on the epiphyseal plate.Materials and Methods: Eighteen female and eighteen male Sprague Dawley rats, aged 21-days postnatal, were divided int...

hrp0098fc13.6 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Voice frequency in healthy children and adolescents: A biomarker of androgen action in puberty

A Holmboe Stine , Vilmann Lea , R Grøndahl Veronica , E. Thomsen Charlotte , Ø. Fritzbøger Andrés , Edström Pernille , S. Busch Alexander , Aksglaede Lise , P. Hagen Casper , Juul Anders

Introduction: The pubertal transition is accompanied by voice break in boys. Studies asking men to retrospectively recall their age at voice break report an average age of voice break corresponding to 13.4-14.0 years. However, it may be difficult to remember precisely when your voice broke, and recall bias is quite large. Little is known about voice frequency in boys and girls in relation to pubertal timing.Aim: To asses...

hrp0098p1-6 | Adrenals and HPA Axis 1 | ESPE2024

Impact of Fludrocortisone on Blood Pressure in Young Children Under 5 with CAH in the I-CAH Registry: Autoregressive Causal Inference Analysis

R. Lawrence Neil , Bacila Irina , Tonge Joseph , Dawson Jeremy , S. Collins Gary , Lang Zi-Qiang , Bryce Jillian , Alimussina Malika , Chen Minglu , R. Ali Salma , Adam Safwaan , L.T. van den Akker Erica , A.S.S. Bachega Tânia , Baronio Federico , H. Birkebæk Niels , Bonfig Walter , Claahsen–van der Grinten Hedi , Cools Martine , C. Costa Eduardo , Debono Miguel , de Vries Liat , Flück Christa , Gazdagh Gabriella , Güven Ayla , Hannema Sabine , Iotova Violeta , J. van der Kamp Hetty , Krone Ruth , Leka-Emiri Sofia , Clemente-León María , R. Lichiardopol Corina , L. Markosyan Renata , Milenkovic Tatjana , C. Miranda Mirela , Neumann Uta , Newell-Price John , Poyrazoğlu Şükran , Probst-Scheidegger Ursina , Rey Rodolfo , Russo Gianni , De Sanctis Luisa , N. Seneviratne Sumudu , R. Stancampiano Marianna , Tadokoro-Cuccaro Rieko , Thankamony Ajay , Vieites Ana , Wasniewska Malgorzata , Yeste Diego , Tomlinson Jeremy , Faisal Ahmed S , Krone Nils

Background: The International Congenital Adrenal Hyperplasia (CAH) Registry provides rich longitudinal data from CAH patients with 21 Hydroxylase deficiency. We estimated the average total causal effect of fludrocortisone on blood pressure in patients with CAH by modelling within a causal inference framework.Methods: We constructed a directed acyclic graph (DAG) with domain experts (using Dagitty.net) to establi...

hrp0098p1-7 | Adrenals and HPA Axis 1 | ESPE2024

Variation in Blood Pressure in Young Adults with 21a-Hydroxylase Deficiency: Longitudinal Multilevel Modelling of Data from the I-CAH Registry

R. Lawrence Neil , Bacila Irina , Tonge Joseph , Dawson Jeremy , S. Collins Gary , Lang Zi-Qiang , Bryce Jillian , Alimussina Malika , Chen Minglu , R. Ali Salma , Adam Safwaan , L.T. van den Akker Erica , A.S.S. Bachega Tânia , Baronio Federico , Bonfig Walter , Claahsen-van der Grinten Hedi , Cools Martine , C. Costa Eduardo , Debono Miguel , de Vries Liat , Flück Christa , Gazdagh Gabriella , Güven Ayla , Hannema Sabine , Iotova Violeta , J van der Kamp Hetty , Krone Ruth , Leka-Emiri Sofia , Clemente-León María , R. Lichiardopol Corina , L. Markosyan Renata , Milenkovic Tatjana , C. Miranda Mirela , Neumann Uta , Newell-Price John , Poyrazoğlu Şükran , Probst-Scheidegger Ursina , Russo Gianni , De Sanctis Luisa , N. Seneviratne Sumudu , R. Stancampiano Marianna , Tadokoro-Cuccaro Rieko , Thankamony Ajay , Vieites Ana , Wasniewska Malgorzata , Yeste Diego , Tomlinson Jeremy , Faisal Ahmed S , Krone Nils

Background: Alterations in blood pressure in treated CAH due to 21 hydroxylase deficiency is contentious, with studies reporting different effects. We used data from young adults entered into the I-CAH registry to assess the change in blood pressure readings recorded within patients over time.Methods: We used longitudinal mixed effects modelling (LMEM) in R to account for repeated measures in two levels within patients a...

hrp0098p2-72 | Diabetes and Insulin | ESPE2024

Neonatal Diabetes Due to Insulin Gene Mutation

Bakır Gizem , Büyükinan Muammer , Bora Ulukapı Hasan , Melek Oğuz Melahat , Öner Nergiz , Fettah Ali , Aslı Bala Keziban , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

Introduction: IPEX Syndrome (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) is characterized by mutations in the Forkhead BoxP3 (FOXP3) transcription factor, leading to autoimmunity in various organs starting in the perinatal period. This syndrome manifests with proliferative lesions in the thyroid gland, gastrointestinal system, skin, and other organs. We report a case of a 4-month-old male with neonatal diabetes, resistant thrombocytopenia,...

hrp0098p3-184 | Multisystem Endocrine Disorders | ESPE2024

A Case Presenting with Breast Asymmetry: Diagnostic Process with Associated Syndromic Features

Neslihan Bildik Hacer , Esen Senem , Sezer Abdullah , Şeyma Oğuzalp Sevim , Eldem Veli , Muratoğlu Şahin Nursel , Çakır Gündoğan Seçil , Çetinkaya Semra

Subclavian artery disruption sequence explains the development and association of Poland, Klippel-Feil, and Moebius anomalies with the hypothesis of vascular etiology. Herein, the coupling of Klippel-Feil-Poland-Moebius Syndromes and the diagnostic process in a patient who presented to our outpatient clinic with breast asymmetry will be discussed. At the age of 11 years and 10 months, the patient presented with breast asymmetry (smaller left breast-hypotelia). The patient&apos...

hrp0082p1-d1-147 | Growth | ESPE2014

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

Minari R , Vottero A , Azzolini S , Barbaro D , Bindi G , Bozzola M , Burrai C , Cardinale G M , Cioffi D , Cisternino M , Coccioli M S , Delvecchio M , Fabbrizi E , Ferrari M , Gallarotti F , Gallo F , Ghizzoni L , Maggio M C , Mainetti B , Montinaro R , Municchi G , Panariello A , Parpagnoli M , Perrone L , Petraroli M , Radetti G , Radicioni A F , Rossodivita A , Salerno MC , Savasta S , Seminara S , Tafi L , Tomat M , Tummolo A , Wasniewska M , Iughetti L , Bernasconi S

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

hrp0094p2-19 | Adrenals and HPA Axis | ESPE2021

Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years

Buonocore Federica , Maharaj Avinaash , Qamar Younus , Koehler Katrin , Suntharalingham Jenifer P. , Chan Li F. , Ferraz-de-Souza Bruno , Hughes Claire R. , Lin Lin , Prasad Rathi , Allgrove Jeremy , Andrews Edward T. , Buchanan Charles R. , Cheetham Tim D. , Crowne Elizabeth C. , Davies Justin H. , Gregory John W. , Hindmarsh Peter C. , Hulse Tony , Krone Nils P. , Shah Pratik , Shaikh Mohamad G. , Roberts Catherine , Clayton Peter E. , Dattani Mehul T. , Thomas N. Simon , Huebner Angela , Clark Adrian J. , Metherell Louise A. , Achermann John C. ,

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...