hrp0086p2-p672 | Growth P2 | ESPE2016

Long-Term Results of GH Therapy in GH-Deficient Children Treated in Albania

Gjikopulli Agim , Grimci Lindita , Kollcaku Laurent , Tomori Sonila , Ylli Zamira

Background: GH treatments aim to normalize growth, correct health problems associated with GH deficiency, and help patients achieve an adult height in the normal range for the general population and for familial genetic potential.Objective and hypotheses: To evaluate the efficiency of recombinant GH (rhGH) for improving adult height in children with GH deficiency (GHD).Method:: This is an observational follow up study which enrolle...

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...

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...