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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 bee...n 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.
先天性下垂体ホルモン複合欠損症は，下垂体前葉ホルモンが先天性にいろいろな欠損を伴う疾患である．PROP1 遺伝子異常症はしばしば先天性下垂体ホルモン複合欠損症の原因となりうるが，日本人患者の報告は非常に少ない．本症例は37 歳日本人男性のPROP1 遺伝子異常症であり，ハイドロコートン，テストステロンおよびチラージンS の補充療法を以前から受けている．今回精査の結果，重症成人成長ホルモン分泌不全症が判明し成長ホルモンの補充を開始した症例である．遺伝子解析にてR112X（Arg 112 Ter）と今までに報告のない変異を伴ったPROP1 遺伝子異常症であることが判明した．ところで成長ホルモン補充開始後10 カ月において，血中コルチゾール，尿中コルチゾールが補充前と比較して有意な低下を認めた．成長ホルモンの補充を開始したPROP1遺伝子異常症において，視床下部―下垂体―副腎系の厳重な経過観察が重要であることが示唆された．show more
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