Recombinant Human Growth Hormone Replacement in a Japanese Man with a Novel PROP1 Gene Mutation (R112X)

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  • Ogo Atsushi
    Department of Metabolism and Endocrinology, Clinical Research Institute, National Hospital Organization Kyushu Medical Center
  • Maruta Tetsushi
    Department of Metabolism and Endocrinology, Clinical Research Institute, National Hospital Organization Kyushu Medical Center
  • Ide Chiharu
    Department of Metabolism and Endocrinology, Clinical Research Institute, National Hospital Organization Kyushu Medical Center
  • Sakai Yoshiyuki
    Department of Metabolism and Endocrinology, Clinical Research Institute, National Hospital Organization Kyushu Medical Center
  • Matoba Yuka
    Department of Metabolism and Endocrinology, Clinical Research Institute, National Hospital Organization Kyushu Medical Center
  • Hiramatsu Shinsuke
    Department of Metabolism and Endocrinology, Clinical Research Institute, National Hospital Organization Kyushu Medical Center
  • Usui Takeshi
    Division of Endocrinology and Metabolism, Clinical Research Institute National Hospital Organization Kyoto Medical Center
  • Naruse Mitsuhide
    Division of Endocrinology and Metabolism, Clinical Research Institute National Hospital Organization Kyoto Medical Center
  • Shimatsu Akira
    Division of Endocrinology and Metabolism, Clinical Research Institute National Hospital Organization Kyoto Medical Center

Bibliographic Information

Other Title
  • 未知のR112X変異を伴ったPROP1遺伝子異常症で，成長ホルモン補充療法を開始した日本人男性の一例

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Abstract

Congenital combined pituitary hormone deficiency (CPHD) is associated with deficiencies of anterior pituitary hormones. PROP1 gene mutations are often responsible for CPHD, but few such cases have been reported in Japan. This study describes a 37-year-old Japanese man with CPHD, treated with hydrocortisone, testosterone, and L-thyroxine, who was evaluated for adult growth hormone deficiency (GHD). Gene analysis revealed a previously unknown PROP1 mutation (R112X). After 10 months of recombinant human growth hormone (rhGH) administration, cortisol and urinary free cortisol levels were significantly lower than before therapy. This case underscores the importance of reassessing hypothalamic-pituitary-adrenal axis function in GHD patients, especially those with a PROP1 mutation, during rhGH therapy.

Journal

  • 福岡醫學雜誌

    福岡醫學雜誌 102 (9), 277-283, 2011-09-25

    Fukuoka Medical Association

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