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  • Open Access

Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency

  • 1,
  • 2,
  • 3,
  • 3,
  • 4,
  • 2,
  • 4,
  • 2,
  • 5 and
  • 3
International Journal of Pediatric Endocrinology20132013 (Suppl 1) :P59

https://doi.org/10.1186/1687-9856-2013-S1-P59

  • Published:

Keywords

  • Growth Hormone
  • Growth Velocity
  • Growth Hormone Deficiency
  • Human Growth Hormone
  • Growth Hormone Therapy

Tricho-rhino-phalangeal syndrome type I (TRPSI) is a rare autosomal dominant hereditary disorder characterized by sparse hair, bulbous nose, long philtrum, thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. TRPSI is caused by mutations in the TRPS1 gene. Herein, we report two Korean cases of TRPSI. Although both patients (a 17-year-old-female and a 14-year-old male) had typical clinical findings, Patient 1 had an additional growth hormone (GH) deficiency. Treatment with recombinant human growth hormone (rhGH) 0.7 IU/kg/week led to an increase in growth velocity. Over 10 years of GH therapy, the mean growth velocity was 5.7±0.9 cm/year. While patient 2 showed a low response after the GH stimulation test, the patient had a poor response with rhGH therapy and GH therapy was discontinued after 6 months.

For the genetic analysis of the TRPS1 gene, two mutations were found. Patient 1 had a heterozygous mutation c.2520dupT (p.Arg841LysfsX3) which had not been previously reported. Patient 2 had a known nonsense mutation c.1630C>T (p.Arg544X). In summary, we were the first to report Korean patients with mutation of TRPS1.

Authors’ Affiliations

(1)
Department of Medical Genetics, Ajou University Hospital, Suwon, Korea
(2)
Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, Seoul, Korea
(3)
Department of Pediatrics Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
(4)
Center for Clinical Research, Samsung Biomedical Research Institute, Seoul, Korea
(5)
Department of Radiology, Ajou University Hospital, Suwon, Korea

Copyright

© Sohn et al; licensee BioMed Central Ltd. 2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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