Vol. 15 No. 2 (2023): Arch Pub Health
Case Report

Final height in a boy with achondroplasia treated with growth hormone- case report

Marina Krstevska-Konstantinova
University Clinic for Children’s Diseases; Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
Konstandina Kuzevska-Maneva
University Clinic for Children’s Diseases; Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
Arjeta Raufi
Clinical Hospital in Tetovo, Department for Children’s Diseases, Republic of North Macedonia
Ana Stamatova
University Clinic for Children’s Diseases; Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia

Published 2023-09-20

Keywords

  • achondroplasia,
  • growth hormone treatment,
  • height

How to Cite

1.
Krstevska-Konstantinova M, Kuzevska-Maneva K, Raufi A, Stamatova A. Final height in a boy with achondroplasia treated with growth hormone- case report. Arch Pub Health [Internet]. 2023 Sep. 20 [cited 2023 Dec. 9];15(2). Available from: https://id-press.eu/aph/article/view/6104

Abstract

Achondroplasia is the most common genetic form of skeletal dysplasia in humans. It is characterized by short stature and skeletal disproportion. Patients with this condition have comorbidities, such as cardiovascular problems, spinal cord problems, hearing and dental problems as well as psychological issues. We report final height of 147 cm in a 17-year-old boy treated with growth hormone, however without improvement in body proportions. Surgical therapy for limb lengthening had been proposed, which the patient refused. At this age he developed hypertension and was referred to a cardiologist, nephrologist, as well as to an orthopedic surgeon and psychologist. Recently, a new treatment with vosoritide has been introduced, promising better height outcome, but uncertain phenotype improvement. Multidisciplinary approach is recommended for these patients and close monitoring during childhood, adolescence and adulthood. Genetic counseling is also advised.

 

 

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