Final height in a boy with achondroplasia treated with growth hormone- case report
- growth hormone treatment,
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Copyright (c) 2023 Marina Krstevska-Konstantinova, Konstandina Kuzevska-Maneva, Arjeta Raufi, Ana Stamatova
This work is licensed under a Creative Commons Attribution 4.0 International License.
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.
- Tanaka H, Kubo T, Yamate T, et al. Effect of growth hormone therapy in children with achondroplasia: Growth pattern, hypothalamic-pituitary function and genotype. Eur J Endocrinol 1998; 138:275-80
- Horton WA, Rotter JI, Rimoin DL et al. Standard growth curves for achondroplasia. J Pediatr 1978; 93:435-8
- Ireland PJ, Pacey V, Zanki A. et al. Optimal management of complications associated with achondroplasia. Appl Clin Genet 2014; 7: 117-25
- Morc ET. Chondrodystrophic dwarfs in Denmark. Copenhagen: Munsgaard; 1941
- Nishi Y, Kajiyama M, Miyagawa S, et al. Growth hormone therapy in achondroplasia. Acta Endocrinologica 1993; 128:394-6
- Horton WA, Hecht JT, Hood OJ, et al. Growth hormone therapy in achondroplasia. American J Med Genet 1992; 42:667-70
- Appan S, Laurent S, Chapman S, et al. Growth and growth hormone therapy in hypochondroplasia. ActaPaed Scand 1990; 79: 796-803
- Kubota T, Adachi M, Kitaoka T, et al. Clinical practice guidelines for achondroplasia. Clin Ped Endocrin 2020;29:25-42
- Krstevska-Konstantinova M, Stamatova A, Gucev Z. Favorable growth hormone treatment response in a young boy with achondroplasia. Med Arch 2016; 70:148-150
- Cormier-Daire V, Al Sayed M, Ben-Omran T, et al. The first European consensus on principles of management for achondroplasia. Orphanet J Rare Dis 2021; 16:333.
- Savarirayan R, Tofts L, Irving M, et al. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomized, double-blind, phase 3, placebo-controlled, multicenter trial. The Lancet. 2020; 396; 10252:684-692