hrp0094p1-146 | Sex Endocrinology and Gonads B | ESPE2021

Reaching a definitive diagnosis of hypogonadotropic hypogonadism – experience of a multidisciplinary diagnostic service

Patjamontri Supitcha , Alimussina Malika , Diver Louise A , McMillan Martin , McNeilly Jane D , K Lucas-Herald Angela , Freel Marie , Jones Greg , Kernohan Andrew , Lindsay Robert , McGowan Neil , Perry Colin , Sastry Aparna , Shaikh M Guftar , Tobias Edward S , McGowan Ruth , Ahmed S Faisal ,

Introduction: Hypogonadotropic hypogonadism (HH) is a rare condition, where a definitive diagnosis is often hard to reach.Objectives: To describe the clinical, biochemical and genetic findings in cases with suspected HH in the West of Scotland who were referred for genetic analysis between 2016 and 2020.Methods: Information was collected on clinical assessment including family hist...

hrp0094p1-161 | Growth B | ESPE2021

Continued Safety and Efficacy of Weekly Lonapegsomatropin (TransCon hGH) for up to Two Years in Children with Growth Hormone Deficiency (GHD)

Aghajanova Elena M. , Casella Samuel J. , Nadgir Ulhas , Hofman Paul , Saenger Paul , Song Wenjie , Mao Meng , Chessler Steven , Komirenko Allison S. , Beckert Michael , Shu Aimee D. , Thornton Paul S. , Maniatis Aristides K. ,

Lonapegsomatropin (TransCon hGH) is an investigational once-weekly prodrug of somatropin for the treatment of GHD. Previous trials in treatment-naïve (52-week heiGHt Trial) and treatment-experienced children (26-week fliGHt Trial) have reported the efficacy and safety of lonapegsomatropin. Subjects were eligible to enter the open-label extension enliGHten Trial, which continues to evaluate weekly lonapegsomatropin in pediatric GHD. In heiGHt, treatment-naïve subjects...

hrp0094p2-397 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Vascular dysfunction and increased cardiovascular risk in hypospadias

Lucas-Herald Angela K , C Montezano Augusto , Alves-Lopes Rheure , Haddow Laura , Alimussina Malika , O’Toole Stuart , Flett Martyn , Lee Boma , Basith Amjad S , Steven Mairi , Brooksbank Katriona , McCallum Linsay , Delles Christian , Padmanabhan Sandosh , Faisal Ahmed S , Touyz Rhian ,

Background: Hypogonadism has been associated with cardiovascular disease. However, little is known about the cardiovascular impact of hypogonadism during development. Using hypospadias as a surrogate of hypogonadism, we investigated whether hypospadias is associated with vascular dysfunction during childhood and whether it is a risk factor for adult cardiovascular disease.Methods: Our human study spanned molecular mechan...

hrp0094p2-196 | Fat, metabolism and obesity | ESPE2021

Machine Learning Quest for Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Treatment

Gawlik Aneta , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Antosz Aleksandra , Kırkgoz Tarık , Turan Serap , Guran Tulay , Aversa Tommaso , Corica Domenico , Wudy Stefan A. , Hartmann Michaela F. , Gruszczynska Katarzyna , Hochberg Ze’ev ,

Context: The traditional approach to childhood obesity management is lifestyle modification/LSM. Nevertheless, the response rate is variable and difficult to predict.Aim: A systematic search for markers to predict outcomes of simple LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%), recruited to a prospective ‘multi-OMICS’ study granted b...

hrp0097p1-76 | Fat, Metabolism and Obesity | ESPE2023

Evaluation of Clinical Characteristics of Patients Diagnosed with Syndromic Obesity

Özalp Kızılay Deniz , Gül Balkı Hanife , Arslan Emrullah , Turkut Tan Türkan , Jalilova Arzu , Işık Esra , Gökşen Damla , Darcan Şükran , Özen Samim

Keywords: Syndromic Obesity, Child, GeneticsObjective: Syndromic obesity is accompanied by dysmorphic findings, motor and mental retardation, and organ anomalies. In this study, we aimed to evaluate the patients who were followed up with a diagnosis of syndromic obesity in our clinic.Materials and Methods: Demographic, clinical, and biochemical data of the patients followed up betwee...

hrp0097p1-315 | Growth and Syndromes | ESPE2023

Which Method is More Effective in Predicting Adult Height in Pubertal Girls Treated with Gonadotropin-Releasing Hormone Agonist?

Akın Kağızmanlı Gözde , Deveci Sevim Reyhan , Besci Özge , Yüksek Acinikli Kübra , Hazal Buran Ayşen , Mert Erbaş İbrahim , Böber Ece , Demir Korcan , Anık Ahmet , Abacı Ayhan

Purpose: The aim of the present study was to determine the efficiency of three different predictive models [Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and Tanner-Whitehouse 2 (TW2)] by comparing their predictions with near-adult height (NAH) data of girls who received gonadotropin-releasing hormone agonist (GnRHa) therapy.Methods: Clinical findings were retrospectively analyzed. Bone age (BA) was determined by thre...

hrp0097p1-572 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Prospective Surveillance Of Gonadectomy In DSD – An I-DSD Care Quality Improvement Project

K Lucas-Herald Angela , Bryce Jillian , H Davies Justin , Shnorhavorian Margarett , Globa Evgenia , Grinspon Romina , Guerra-Junior Gil , Janus Dominika , Faisal Ahmed S , O'Connell Michele , Gonadectomy Surveillance Consortium I-DSD

Introduction: Gonadectomy may be indicated in people with differences or disorders of sex development (DSD). Based on historical data from the International-DSD (I-DSD) Registry that showed considerable practice variation, this I-DSD care quality improvement project seeks to determine, through prospective surveillance, the frequency of gonadectomy in individuals with DSD internationally.Methods: All existing I-DSD centre...

hrp0098p1-66 | Growth and Syndromes 1 | ESPE2024

Turner Syndrome Across Karyotypes: The importance of the short arm of the X chromosome and Neutrophil-Driven Inflammatory Stress

Ochsner Ridder Lukas , Just Jesper , Marie Bruun Johannsen Emma , Magnus Bernth Jensen Jens , Steen Petersen Mikkel , Viborg Helene , Kjærgaard Kenneth , Redder Jacob , Stochholm Kirstine , Skakkebæk Anne , Gravholt Claus

Background: Turner syndrome (TS) is associated with short stature, hypogonadism, autoimmune diseases and metabolic conditions. Genome-wide changes in TS affect both transcriptome and methylome. Genomic studies have primarily focused on 45,X, but only 35-45% of the TS population has 45,X, while the remaining TS have other karyotypes.Methods: We used 5 study cohorts. A “genomic cohort” of TS with 45,X karyotype...

hrp0098p1-177 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Androgen Receptor Cag Repeat Polymorphism Might Be A Possible Cause of Familial Constitutional Delay in Growth and Puberty

Akın Kağızmanlı Gözde , Deveci Sevim Reyhan , Manyas Hayrullah , Paketçi Ahu , Demir Korcan , Böber Ece , Çatlı Gönül , Anık Ahmet , Abacı Ayhan

Background: Being able to induce puberty through a short course of low-dose testosterone therapy in boys with constitutional delay of growth and puberty (CDGP) indicates a crucial interaction between testosterone and androgen receptor (AR) during the activation and maturation of the hypothalamic-pituitary-gonadal axis at the onset of puberty. Previous studies have indicated an inverse association between the CAG repeat length and the transactivation function o...

hrp0098p1-272 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Nonfunctioning pituitary adenomas in childhood: A single-center experience

Hürmüzlü Közler Selen , Koçyiğit Esra , Gürpınar Gözde , Böke Koçer Gizem , Tuğçe Aygün Sibel , Jones Jeremy , Anık İhsan , Çizmecioğlu Jones Filiz

Introduction: The clinical spectrum of nonfunctioning pituitary adenomas (NFPA), which are rare in childhood, varies from asymptomatic to hypopituitarism and/or severe compression-associated symptoms. We present the diagnosis, follow-up, and treatment of pediatric NFPA cases evaluated in a pituitary referral center.Methods: Data of patients aged <18 years and diagnosed with NFPA between 2002 and 2024 were reviewed ret...