hrp0094p2-36 | Adrenals and HPA Axis | ESPE2021

Challenging in diagnosis and treatment of Cushing Disease in a 12 years old boy

Gjikopulli Agim , Kollcaku Laurant ,

Background: CushingÂ’s disease (CD) is caused by an ACTH-secreting pituitary corticotroph adenoma and it is the commonest cause of CushingÂ’s syndrome (CS) in pediatric age. CD is very rare disease almost in pediatric age and the most of pediatric endocrinologists have limited experience in the diagnosis and treatment of children with CD. Microadenomas are the most of ACTH-secreting pituitary tumors in the pediatric age and the majority of these fails ...

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...

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...