hrp0098p2-395 | Late Breaking | ESPE2024

Development of Age-Adapted Modules for Standardized Clinical Data Collection in individuals with Klinefelter Syndrome

Surau Joline , Grasemann Corinna , H. Gravholt Claus , Breen Chris , Aksglaede Lise , Alimussina Malika , Bauer Jens , Boettcher Claudia , Bryce Jillian , Carlomagno Francesco , E. Hannema Sabine , Lucas-Herald Angela , Isidori Andrea , Mazen Inas , Nordenstroem Anna , Faisal Ahmed S

Klinefelter Syndrome (KS) affects an estimated 1 in 500-750 male births, yet over 50% of cases remain undiagnosed. Initially characterized as a condition with post-pubertal gonadal failure, KS is now recognized to involve numerous associated signs, symptoms, and comorbidities, underscoring the need for a multidisciplinary care approach. However, the clinical care of people with KS is variable and is rarely supported by good evidence. To better understand the natural history an...

hrp0098p3-94 | Fat, Metabolism and Obesity | ESPE2024

Real-life Experience of Liraglutide Treatment and Weight Control in Obese Adolescents: A Preliminary Study Supported by Psychoanalysis

Karakaş Hasan , Turan Hande , Güneş Kaya Didem , Sağlam Öz Yeşim , Velioğlu Haşlak Gökçe , Uçar Mert , Altun İlayda , Tarçın Gürkan , Bayramoğlu Elvan , Evliyaoğlu Olcay

Objective: The use of glucagon-like peptide-1 (GLP-1) agonists for the medical treatment of childhood obesity was approved by the FDA four years ago; however, clinical experiences are limited. In this context, our study aims to present the clinical data of obese adolescents receiving liraglutide treatment in our clinic, providing preliminary insights into its efficacy and potential benefits.Method: We retrospectively eva...

hrp0095rfc11.6 | Late Breaking | ESPE2022

Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional study

Cayir Atilla , Demirbilek Huseyin , Turkyılmaz Ayberk , Turan Serap , Bereket Abdullah , Darendeliler Feyza , Nuri Özbek Mehmet , Ünal Edip , Okdemir Deniz , Esen Ihsan , Eren Erdal , Yıldırım Ruken , Çetinkaya Semra , Cansu Sahin Kadriye , Anık Ahmet , Sena Dönmez Ayşe , Pınar Öztürk Ayşe , Bayramoğlu Elvan , Buyukinan Muammer , Gurbuz Fatih , Demir Korcan , Kılınç Suna , Betul Kaygusuz Sare , Çelmeli Gamze , Selvi Eklioglu Beray , Acar Sezer , Dursun Fatma , Turan Ihsan , Özkaya Beyhan , Kurnaz Erdal , Taner Baran Rıza , Özkan Behzat

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

hrp0095p1-517 | Growth and Syndromes | ESPE2022

Evaluation of Genetic Etiology in Children Born Small for Gestational Age with Persistent Short Stature: Preliminary Results

Pınar Öztürk Ayşe , Aslanger Ayça , Karakılıç Özturan Esin , Nur Konur Esma , Güleç Çağrı , Karaman Volkan , Yıldız Melek , Yeşil Gözde , Toksoy Güven , Poyrazoğlu Şükran , Baş Firdevs , Karaman Birsen , Oya Uyguner Zehra , Başaran Seher , Darendeliler Feyza

Background: Approximately 10-15% of small for gestational age (SGA) newborns are at risk of having subnormal growth and persistent short stature. It is postulated that a large amount of persistent short stature results from genetic abnormalities, which are commonly characterized by dysmorphic features and developmental disorders.Aim: To uncover the genetic etiology of syndromic short stature children born SGA.<p clas...

hrp0092p1-135 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Combining Clinical and Genetic Approaches in Diagnosing a Large Brazilian Cohort of Patients with 46,XY Differences of Sex Development (DSD)

Gomes Nathalia Lisboa , Batista Rafael Loch , Nishi Mirian Y , Marcondes Antonio , Silva Tatiane E. , Funari Mariana , Faria Júnior José Antônio Diniz , Silva Daniela Moraes , Montenegro Luciana , Frade Costa Elaine Maria , Jorge Alexander Augusto , Domenice Sorahia , Mendonca Berenice Bilharinho

Background: Most published studies on 46,XY DSD focused on genetic findings without association with biochemical work-up.Objectives: To retrospectively analyze the clinical and genetic findings of a large cohort of 46,XY DSD patients.Methods: 285 non-syndromic 46,XY DSD individuals (192 sporadic and 89 familial cases) were studied. LH, FSH, testosterone (T), androstenedione (A) wer...

hrp0092p1-262 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Long-Term Outcome in Leydig Cell Hypoplasia

Boncompagni Alessandra , Bryce Jillian , Lucaccioni Laura , Iughetti Lorenzo , Acerini Carlo , Cuccaro Rieko T , Bertelloni Silvano , Hannema Sabine E , Darendeliler F Feyza , Poyrazoglu Sükran , Denzer Friederike , Batista Rafael L , Domenice Sorahia , Latronico Ana C , Mendonça Berenice B , Rey Rodolfo , Ahmed S Faisal

Background: Leydig Cell Hypoplasia (LCH) is a very rare autosomal recessive condition that is manifested by a wide spectrum of phenotypes, ranging from completely female external genitalia to male genitalia. Long-term outcome in these patients is unclear.Objectives: To assess sex assignment, clinical characteristics and long-term outcome of 46,XY LCH cases.Patients and Methods: Thr...

hrp0089p1-p026 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

Duration of Breastfeeding and Bone Mineral Density in Childhood – A Prospective Study Among Preschool Children

Tint Mya Thway , Pang Wei Wei , Vasanwala Rashida Farhad , Padmapriya Natarajan , Ng Sharon , Soh Shu E , Chong Mary Fong-Fong , Shek Lynette Pei Chi , Gluckman Peter D , Chong Yap-Seng , Godfrey Keith M , Fortier Marielle V , Eriksson Johan G , Lee Yung Seng , Zhang Cuilin , Yap Fabian

Background: Bone growth and mineralization during childhood are now recognized as important for bone health in adulthood, leading to renewed interest in identifying modifiable factors that impact bone mineral density (BMD) in childhood. Emerging data suggest that duration of breastfeeding may affect BMD in later childhood and adult life. However, such data are sparse and inconsistent.Objectives: This study examined the relationship betwe...

hrp0089p1-p058 | Diabetes &amp; Insulin P1 | ESPE2018

Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology

Patel Kashyap A , Colclough Kevin , Nuri Ozbek Mehmet , Yildiz Melek , Guran Tulay , Kocyigit Cemil , Acar Sezer , Siklar Zeynep , Atar Muge , Johnson Matt B , Flanagan Sarah E , Ellard Sian , Mine Cizmecioglu Filiz , Berberoglu Merih , Demir Korcan , Catli Gonul , Bas Serpil , Akcay Teoman , Demirbilek Huseyin , Weedon Michael N , Hattersley Andrew T

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

hrp0089p1-p128 | Fat, Metabolism and Obesity P1 | ESPE2018

Rate of Accumulation of Abdominal Fat is Associated with Fasting Glucose Levels in Early Childhood

Anand Sadananthan Suresh , Thway Tint Mya , Michael Navin , Wei Pang Wei , Ling Loy See , Soh Shu-E , Shek Lynette , Yap Fabian , Hian Tan Kok , Kramer Michael , Eriksson Johan , Godfrey Keith , Gluckman Peter , Seng Chong Yap , Karnani Neerja , Seng Lee Yung , Fortier Marielle , Sendhil Velan S

Objectives: Abdominal fat has been strongly linked to increased cardiometabolic risk and impaired glucose regulation in adults. Owing to the lack of detailed body composition phenotyping in most previous child cohort studies, the temporal links between abdominal fat accumulation and impaired glucose regulation have not been well established. In this study, we evaluated the associations of abdominal fat assessed by MRI at early infancy (≤21 days after birth) and at 4.5 ye...