hrp0097p1-22 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Fibroblast growth factor receptor-3 (FGFR3) mutation frequency in 17 Albanian children who were clinically to have Achondro – Hypochondroiplasia

Gjikopulli Agim , Cullufi Paskal , Kollcaku Laurant , Tomori Sonila , Tako Aferdita

Keywords: Achondroplasia, Hypochondroplasia, Dwarfism, Fibroblast growth factor receptor-3.Introduction: Achondroplasia (ACH) and hypochondroplasia (HCH) are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases characterized by a rhizomelic shortening of the limbs, genu varum, trident hands, large head with frontal bossing and hypoplasia of the mid-face. Both ACH and HCH are caused by mi...

hrp0084p1-64 | DSD | ESPE2015

MAMLD1 Mutations Seem Not Sufficient to Explain a 46, XY DSD Phenotype. What else?

Camats Nuria , Fernandez-Cancio Monica , Audi Laura , Mullis Primus E , Moreno Francisca , Casado Isabel Gonzalez , Lopez-Siguero Juan Pedro , Corripio Raquel , de la Vega Jose Antonio Bermudez , Blanco Jose Antonio , Fluck Christa E

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...

hrp0084p3-896 | Fat | ESPE2015

Prevalence of Excess Weight in Adolescents at Primary Health Care Units in South Brazil

Vargas Deisi Maria , de Medeiros Ana Carolina Santin , Klieman Elis , Eberhardt Isabel , Piesanti Vera Janete , Pasa Simone , da Silva Claudia Regina Lima Duarte , Coutinho Luciane Azevedo , Simao Vilma Margarete

Background: In the past decades Brazil has experienced a nutritional transition process characterised by a significant reduction in malnutrition and progressive increase in overweight and obesity. Nutritional education and precocious interventions are useful strategies to combat excess weight in childhood and adolescence. According to the World Health Organization (WHO), there were more than 40 million children overweight in the world in 2011. In Brazil, the prevalence of exce...

hrp0097rfc4.6 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Results from the PROPEL 2 dose-finding study: oral infigratinib leads to significant increases in height velocity with good tolerability in children with achondroplasia

Savarirayan Ravi , Maria De Bergua Josep , Arundel Paul , Pierre Salles Jean , Saraff Vrinda , Delgado Borja , Leiva-Gea Antonio , McDevitt Helen , Nicolino Marc , Rossi Massimiliano , Salcedo Maria , Cormier-Daire Valerie , Skae Mars , Kannu Peter , B. Bober Michael , Phillips III John , Saal Howard , Harmatz Paul , Burren Christine , Candler Toby , Cho Terry , Muslimova Elena , Weng Richard , Raj Supriya , Hoover-Fong Julie , Irving Melita , Rogoff Daniela

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...

hrp0089p2-p370 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Persistent Müllerian Duct Syndrome in Twin Brothers Caused by a Novel Mutation in the AMHR2 Gene

Maele Karolien Van De , Rademaeker Marjan de , Gies Inge , Vanbesien Jesse , Klink Daniel , Boe Veerle De , Schepper Jean De

Background: Persistent Müllerian Duct Syndrome (PMDS) needs to be considered in boys (46, XY) presenting with bilateral cryptorchidism or unilateral cryptorchidism associated with an inguinal hernia. Anti-Müllerian hormone (AMH) gene as well as Anti-Müllerian hormone Receptor (AMHR 2) gene mutations have been identified in PMDS boys.Aim and methods: To report a novel mutation in the AMHR 2 gene in monochorionic d...

hrp0082fc4.1 | Growth | ESPE2014

Heterozygous IGF1R Mutations Represent a Frequent Finding in Patients with Pre- and/or Postnatal Proportional Undergrowth and Low, Normal or Supranormal IGF1

Campos-Barros Angel , Gomez-Nunez Ana , Gonzalez-Casado Isabel , Salamanca-Fresno Luis , Garcia-Minaur Sixto , Ros-Perez Purificacion , Borras-Perez Victoria , Audi Laura , Rosell-Andreo Jordi , de Sotto-Esteban Diego , Garcia-Cuartero Beatriz , Gonzalez-Vergaz Amparo , Cruz-Rojo Jaime , Garzon Lucia , Gallego-Gomez Elena

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: To investigate the frequency of IGF1R mutations in a cohort of patients with pre- and/or postn...

hrp0089rfc11.1 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement

Mantovani Giovanna , Bastepe Murat , Monk David , de Sanctis Luisa , Thiele Susanne , Usardi Alessia , Ahmed Faisal , Bufo Roberto , Choplin Timothee , DeFillipo Gianpaolo , Devernois Guillemette , Eggermann Thomas , Elli Francesca M , Freson Kathleen , Ramirez Aurora Garcia , Germain-Lee Emily , Groussin Lionel , Hamdy Neveen , Hanna Patrick , Hiort Olaf , Juppner Harald , Kamenicky Peter , Knight Nina , Kottler Marie-Laure , Le Norcy Elvire , Lecumberri Beatriz , Levine Michael A , Makiti Outi , Martin Regina , Martos-Moreno Gabriel Angel , Minagawa Masanori , Muray Philip , Pereda Arrate , Pignolo Roberto , Rejnmark Lars , Rodado Rebecca , Rothenbuhler Anya , Saraff Vrinda , Shoemaker Ashley , Shore Eileen M. , Silve Caroline , Turan Serap , Woods Philip , Zillikens M. Carola , de Nanclares Guiomar Perez , Linglart Agnes

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseous heteroplasia refer to heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, stocky build, subcutaneous ectopic ossifications, as well as laboratory abnormalit...

hrp0095p2-190 | Growth and Syndromes | ESPE2022

Results of treatment with recombinant human growth hormone (rhGH) in patients with Turner syndrome. Albanian experience

Gjikopulli Agim , Kollcaku Laurant , Tomori Sonila , Velija Liliana , Hoxha Petrit , Grimci Lindita

Introduction: Turner syndrome (TS), sometimes referred as congenital ovarian dysgenesis syndrome, is a genetic disorder that results when one of the X chromosomes (sex chromosomes) is missing (monosomic) or partially absent (mosaicism). It can cause a variety of medical and developmental problems, including short height. It is one of the most common syndromes that is included in the list of diseases treated with rhGH during the last 22 years in Albania. This s...