A dyskeratosis congenita (DKC) patient treated with growth hormone

Kyoko Kataoka, Noriyuki Namba, Masaru Inoue, Tsuneo Morishima, Takashi Oono, Keiji Iwatsuki, Hiroyuki Tanaka

Research output: Contribution to journalArticle


Dyskeratosis congenita (DKC) is an inherited disease characterized by the triad of mucosal leukoplakia, abnormal skin pigmentation and nail dystrophy, and it usually appears between the ages of 5 and 10 yr. Reports show that 19.5% of DKC patients have short stature (1). A major complication of DKC is progressive development of pancytopenia and there is also an increased incidence of malignancies. The X-linked form accounts for the majority of cases and is caused by mutations in the DKC1 gene. We report a 9 yr old boy, who presented with the triad of DKC, a mutation in the DKC1 gene and short stature, who was treated with human recombinant growth hormone (hGH). This is the first report of a DKC patient treated with hGH. Copyright

Original languageEnglish
Pages (from-to)77-80
Number of pages4
Journalclinical pediatric endocrinology
Issue numberSUPPL. 24
Publication statusPublished - 2005


  • DKC1
  • Dyskeratosis congenita (DKC)
  • Human recombinant growth hormone (HGH)
  • Short stature

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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    Kataoka, K., Namba, N., Inoue, M., Morishima, T., Oono, T., Iwatsuki, K., & Tanaka, H. (2005). A dyskeratosis congenita (DKC) patient treated with growth hormone. clinical pediatric endocrinology, 14(SUPPL. 24), 77-80. https://doi.org/10.1297/cpe.14.S24_77