hrp0098t20 | Top 20 Posters | ESPE2024

Real World Effectiveness of Vosoritide in 165 Children with Achondroplasia – Data from a Multicenter European Registry

Wechsung Katja , Al-Halak Maesa , Avdjieva-Tzavella Daniela , Bechtold-Dalla Pozza Susanne , Beger Christoph , Gausche Ruth , Grasemann Corinna , Högler Wolfgang , Hösl Matthias , Hoyer-Kuhn Heike , Huebner Angela , Ingwers Anja , Janner Marco , Keller Alexandra , Kunkel Philip , Nader Sean , Mohnike Klaus , Muschol Nicole , Palm Katja , Pötzsch Simone , Rutsch Frank , Schnabel Dirk , Soucek Ondrej , Streata Ioana , Vogt Björn , MK Völkl Thomas , Wölfle Joachim , Zeman Jiri , Pfäffle Roland

Introduction: Vosoritide is licensed by EMA for the treatment of children with achondroplasia above 4 months of age in 2023 (initial approval for children above 2 years in 2021). The CNP analogue modulates enchondral bone growth and improves growth velocity. Response to therapy varies between individuals. Nineteen European centers enter auxological and diagnosis-specific data into the achondroplasia module of the CrescNet® registry to monitor treatment. We...

hrp0098p3-248 | Thyroid | ESPE2024

The Natural Course of Subclinical Hypothyroidism in Children and Adolescents: A Comprehensive Review

Alaaraj Nada , Soliman Ashraf , Alyafei Fawzia , Hamed Noor , Ahmed Shayma , Adel Ashraf , Sabt Amal

Introduction: Subclinical hypothyroidism (SH) in children and adolescents is a condition characterized by elevated thyroid-stimulating hormone (TSH) levels with normal serum free thyroxine (T4). The clinical significance and natural course of SH remain subjects of debate, necessitating a review of the literature to guide management decisions.Methods: This review analyzed ten studies, encompassing both observational cohor...

hrp0098p3-129 | GH and IGFs | ESPE2024

Exploring the Impact of Growth Hormone Therapy on Glucose and Insulin Metabolism in Children with GH Deficiency: A Review

Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Hamed Noor , Ahmed Shayma

Introduction: Children with growth hormone (GHD) often exhibit unique patterns in glucose and insulin metabolism, which could potentially deteriorate upon receiving GH therapy. This therapeutic intervention, while crucial for promoting normal growth, may inadvertently influence the intricate balance of glucose homeostasis and insulin sensitivity,Methods: We reviewed and analyzed 12 studies based on their relevance, in ch...

hrp0092s6.1 | Endocrinology Meets Diversity: Transgender Youth | ESPE2019

Impact of Cross-Sex Hormone Treatment on Structural Brain Networks

Lanzenberger Rupert

Sex-steroid hormones such as testosterone and estradiol play a key role in sexual differentiation during gestation but exert also strong effects on the body and the brain during puberty or even in adulthood. In addition, influences on cognition and emotional processing are frequently reported. The investigations of transgender people undergoing cross-sex hormone therapy provide a unique model for studying those effects on gray and white matter brain structure in vivo by using ...

hrp0098p3-316 | Late Breaking | ESPE2024

Functional Magnetic Resonance Imaging (fMRI) Findings and Brain Maturity Index in Children with Idiopathic Short Stature and Growth Hormone Deficiency: A Comprehensive Review

Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Hamed Noor , Ahmed Shayma , AlHemedi Noora , Elawwa Ahmed , Noureldin Abbas

Introduction: Idiopathic short stature (ISS) and growth hormone deficiency (GHD) are conditions that can result in various cognitive and behavioral abnormalities. Functional Magnetic Resonance Imaging (fMRI) is a valuable tool for investigating brain functional connectivity and maturity, offering insights into the neurological underpinnings of ISS and GHD. This review summarizes fMRI findings and their clinical associations, highlighting differences in brain m...

hrp0098p2-311 | Late Breaking | ESPE2024

Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study

Cayir Atilla , Turan Serap , Selver Eklioğlu Beray , Bayramoğlu Elvan , Unal Edip , Yildiz Melek , Acar Sezer , Eviz Elif , Dursun Fatma , Türkyılmaz Ayberk , Köprülü Özge , Özkaya Beyhan , Betül Kaygusuz Sare , Cantürk Merve , Sena Dönmez Ayşe , Turan Ihsan , Derya Kardelen Al Aslı , Buyukinan Muammer , Aydın Can , Dündar İsmail , Kırmızıbekmez Heves , Çamtosun Emine , Eroğlu Filibeli Berna , Akyürek Nesibe , Keskin Melikşah , Bilge Koca Serkan , Özkan Behzat , Bereket Abdullah , Demirbilek Huseyin

Background: Vitamin D Dependent Rickets Type-II (VDDRII) is a rare autosomal recessive disorder characterized by defects in its effect on the target organ due to mutations in the vitamin receptor (VDR) gene (Type 2) encoding for the active form 1,25 dihydroxyvitamin D.Objective and hypotheses: To evaluate the clinical characteristics, molecular genetics analysis results and long-term follow-up of a large nationwide cohor...

hrp0098p1-51 | GH and IGFs 1 | ESPE2024

The Metabolic Impacts of GH Therapy in SGA Children and Its Effects on Various Metabolic Parameters and Health Outcomes

Alyafei Fawzia , Soliman Ashraf , Alaaraj Nada , Hamed Noor , Ahmed Shayma , Elsiddig Sohair

Introduction: Children born small for gestational age (SGA) are susceptible to abnormal glucose metabolism and insulin resistance, which may be exacerbated by (GH) therapy.Methods: A comprehensive analysis of existing literature was conducted to assess the outcomes and implications of GH treatment in this specific pediatric population.Results: 10 studies were reviewed, (1458 SGA ch...

hrp0092rfc15.2 | Late Breaking Abstracts | ESPE2019

BMP4 Mutations as a Novel Cause of Normosmic Hypogonadotropic Hypogonadism

Topaloglu A. Kemal , Yildirim Ruken , Damla Kotan Leman , Akkus Gamze , Unal Edip , Turan Ihsan , Dilek Semine , Tastan Mehmet , Gurbuz Fatih , Yuksel Bilgin

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...

hrp0098p3-83 | Fat, Metabolism and Obesity | ESPE2024

The Relation between Obesity and Thyroid Function in Children and Adolescents

Hamed Noor , Soliman Ashraf , Sabt Amal , Alaaraj Nada , Ahmed Shayma , Alyafei Fawzia

Introduction: The prevalence of obesity in children and adolescents is increasing globally, prompting investigations into its effects on various health parameters, including thyroid function.Aim of the Review: To elucidate the relationship between obesity and thyroid function in the pediatric population through a review of recent studies.Review Results: Analysis of studies involvin...

hrp0098p3-250 | Thyroid | ESPE2024

Thyroxine's Role in Growth and Development: A Review of Clinical Effects

Alaaraj Nada , Soliman Ashraf , Sabt Amal , Adel Ashraf , Hamed Noor , Ahmed Shayma , Alyafei Fawzia

Background: Thyroxine (T4) is critical in regulating growth and developmental processes. This review synthesizes 20 studies to examine thyroxine's effects on linear growth and development.Methods: A comprehensive review of the last two decades' research articles was conducted, selecting studies that examined thyroxine therapy on growth, development, and metabolic regulation in hypothyroid pediatric populations....