hrp0092p3-175 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

McCune Albright Syndrome: Two Cases with Different Clinical Courses

Gjikopulli Agim

McCune-Albright syndrome consists of pigmented skin patches, polyostotic fibrous dysplasia, and a variety of endocrine disorders. Café au lait spots are characteristic skin lesions that reflect the onset of the somatic mutations in melanocytes during embryonic development. Polyostotic fibrous dysplasia is caused by activation of the parathyroid hormone receptor pathway in bone. Hormonal hypersecretion is the result of constitutive cyclic AMP production caused by ...

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 ...

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...

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...