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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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Case Report

Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report

  • Authors:
    • Jingfang Liu
    • Xulei Tang
    • Jianguo Cheng
    • Liting Wang
    • Xiaomei Yang
    • Yan Wang
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, The First Hospital of Lanzhou University, Lanzhou, Gansu 730000, P.R. China
  • Pages: 1763-1767
    |
    Published online on: March 2, 2015
       https://doi.org/10.3892/etm.2015.2324
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Abstract

Achondroplasia (ACH) is a hereditary dwarfism caused by the disturbed proliferation and differentiation of growth plate chondrocytes, followed by impaired endochondral bone growth. ACH is caused by mutations in the gene encoding the transmembrane receptor, fibroblast growth factor receptor 3 (FGFR3). In total, >90% of patients with ACH have a G1138A mutation in the transmembrane domain of the FGFR3 gene. Patients with ACH usually have no growth hormone (GH) deficiency. The current study presents the case of a four‑year‑old male with clinical manifestations suggestive of ACH, including a large head, prominent forehead, short upper arms and legs, and short hands with fingers assuming a trident position. The patient showed normal responses to GH provocation tests with L‑dopa (peak GH concentration, 42.38 ng/ml) and insulin (peak GH concentration, 23.29 ng/ml during hypoglycemia), but a blunted response to a GH provocation test with arginine (peak GH concentration, 7.31 ng/ml). Furthermore, the GH concentration during exercise was low (4.8 ng/ml). Magnetic resonance imaging revealed a decreased pituitary volume. Thyroid function tests and the levels of sex hormones (follicle stimulating hormone, luteinizing hormone, estradiol, prolactin and progesterone), cortisol and adrenocorticotropic hormone were normal. A heterozygous G1138A mutation within the FGFR3 gene was detected, confirming the diagnosis of ACH. Thus, recombinant human GH therapy (0.1 IU/kg/day) was initiated. At the six‑month follow‑up, the height, arm span‑to‑height ratio and lower limb length‑to‑height ratio of the patient had increased, while the head circumference had decreased. The present results corroborate the finding that the G1138A mutation within FGFR3 is the most common ACH‑causing mutation in different populations. GH may be beneficial in the treatment of short stature in ACH patients with subnormal GH secretion.
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Copy and paste a formatted citation
Spandidos Publications style
Liu J, Tang X, Cheng J, Wang L, Yang X and Wang Y: Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. Exp Ther Med 9: 1763-1767, 2015.
APA
Liu, J., Tang, X., Cheng, J., Wang, L., Yang, X., & Wang, Y. (2015). Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. Experimental and Therapeutic Medicine, 9, 1763-1767. https://doi.org/10.3892/etm.2015.2324
MLA
Liu, J., Tang, X., Cheng, J., Wang, L., Yang, X., Wang, Y."Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report". Experimental and Therapeutic Medicine 9.5 (2015): 1763-1767.
Chicago
Liu, J., Tang, X., Cheng, J., Wang, L., Yang, X., Wang, Y."Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report". Experimental and Therapeutic Medicine 9, no. 5 (2015): 1763-1767. https://doi.org/10.3892/etm.2015.2324
Copy and paste a formatted citation
x
Spandidos Publications style
Liu J, Tang X, Cheng J, Wang L, Yang X and Wang Y: Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. Exp Ther Med 9: 1763-1767, 2015.
APA
Liu, J., Tang, X., Cheng, J., Wang, L., Yang, X., & Wang, Y. (2015). Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. Experimental and Therapeutic Medicine, 9, 1763-1767. https://doi.org/10.3892/etm.2015.2324
MLA
Liu, J., Tang, X., Cheng, J., Wang, L., Yang, X., Wang, Y."Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report". Experimental and Therapeutic Medicine 9.5 (2015): 1763-1767.
Chicago
Liu, J., Tang, X., Cheng, J., Wang, L., Yang, X., Wang, Y."Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report". Experimental and Therapeutic Medicine 9, no. 5 (2015): 1763-1767. https://doi.org/10.3892/etm.2015.2324
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