hrp0094fc4.5 | Diabetes | ESPE2021

Molecular Genetic Diagnosis and Research of Candidate Genes by Targeted Next Generation Sequence Analysis and Whole Exome Sequencing Method in Monogenic Diabetes: MODY-TURK Project

Gokşen Damla , Evin Ferda , Işık Esra , Ozen Samim , Atik Tahir , Ozkınay Ferda , Akcan Neşe , Ozkan Behzat , Buyukinan Muammer , Ozbek Mehmet Nuri , Darcan Şukran , Onay Huseyin ,

Introduction: MODY; is a rare type of diabetes that occurs clinically and genetically due to a single heterogeneous gene defect. To date, 14 different genes have been identified. In order to develop a holistic genetic diagnosis approach to monogenic DM, it is aimed to investigate molecular genetic diagnosis and responsible candidate genes with targeted new generation sequence analysis and whole exome sequencing (WES) method.Metho...

hrp0094fc6.2 | Bone and Mineral Metabolism | ESPE2021

Long-term effectiveness of PTH(1-34) infusion therapy for autosomal dominant hypocalcaemia type 1.

Sastre Ana , Valentino Kevin , Hannan Fadil M , Lines Kate E , Gluck Anna K , Stevenson Mark , Ryalls Michael , Gorrigan Rebecca , Pullen Debbie , Buck Jackie , Sankar Sailesh , Allgrove Jeremy , Thakker Rajesh V , Gevers Evelien F ,

Background: Patients with autosomal dominant hypocalcemia type 1 (ADH1), due to germline gain-of-function calcium-sensing receptor (CASR) mutations, have hypocalcemia and seizures, hyperphosphatemia, hypercalciuria and inappropriately low parathyroid hormone (PTH) concentrations. Treatment for ADH1 comprises calcium and vitamin D analogs, however, their use predisposes to nephrocalcinosis and renal impairment. In contrast, recombinant human PTH(1-34) may incre...

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...

hrp0089rfc11.2 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Nationwide Hypophosphatemic Rickets Study

Siklar Zeynep , Turan Serap , Bereket Abdullah , Abacı Ayhan , Baş Firdevs , Demir Korcan , Guran Tulay , Akberzade Azad , Bober Ece , Ozbek Mehmet Nuri , Kara Cengiz , Poyrazoğlu Şukran , Aydın Murat , kardelen Aslı , tarım Omer , Eren Erdal , Hatipoğlu Nihal , Buyukinan Muammer , Akyurek Nesibe , Cetinkaya Semra , Bayramoğlu Elvan , Eklioğlu Beray Selver , Ucakturk Ahmet , Abalı Saygın , Gokşen Damla , Kor Yılmaz , Unal Edip , Esen Ihsan , Yıldırım Ruken , Akın Onur , Cay Atilla , Dilek Emine , Kırel Birgul , Anık Ahmet , Catlı Gonul , Berberoğlu Merih

Aim: Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and it treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients presented to the pediatric endocrinology clinics before the age of 18 years.Results: From 24 centers, 158 patients (93 male/65 female) were i...