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...

hrp0098p2-377 | Late Breaking | ESPE2024

The etiology of Central Precocious Puberty and the Impact of Gonadotropin-Releasing Hormone Agonist Therapy: Albanian experience.

Gjikopulli Agim , Tomori Sonila , Kollcaku Laurant , Kurti Era , Velija Liljana , Cullufi Paskal

Introduction: Central precocious puberty (CPP) occurs when the HPG axis is activated prematurely. As a result, the affected child develops secondary sexual characteristics earlier than is typical for the average pediatric population. The child experiences accelerated bone maturation and premature closure of the epiphyseal growth plates, resulting in reduced adult stature. The mainstay of CPP treatment is a gonadotropin-releasing hormone analog (GnRHa) that sup...

hrp0086p2-p185 | Bone & Mineral Metabolism P2 | ESPE2016

Multifocal Osteonecrosis after Short Term Methylprednysolon Therapy: A Case Report

Kumaraku Aferdita Tako , Bushati Aida , Gjikopulli Agim , Shehu Armand , Grimci Lindita , Tomorri Sonila , Babo Alma , Mecani Reinald , Basholli Besmira , Dervishi Ermira , Velmishi Virtut , Kollcaku Laurant , Cullufi Paskal

Background: Osteonecrosis is a common sequela of long-term steroid therapy. This paper presents the only case of multifocal osteonecrosis to occur after a short-term course of methylprednisolone for treatment Steven Johns syndrome.Objective and hypotheses: To report a case with multifocal osteonecrosis after short-term methylprednysolon therapy.Method: The child A.N. 15 years old with multifoc...