{"id":121752,"date":"2026-01-07T16:48:34","date_gmt":"2026-01-07T07:48:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=121752"},"modified":"2026-03-04T09:29:57","modified_gmt":"2026-03-04T00:29:57","slug":"pituitary-hormone-deficiency-combined-3-lhx3","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pituitary-hormone-deficiency-combined-3-lhx3\/","title":{"rendered":"\u95a2\u9023\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h3>\n\n\n\n

\u95a2\u9023\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7\uff08Combined Pituitary Hormone Deficiency\uff1aCPHD\uff09\u306f\u3001\u4e0b\u5782\u4f53\u524d\u8449\u30db\u30eb\u30e2\u30f3\u306e\u8907\u6570\u304c\u540c\u6642\u306b\u6b20\u640d\u3059\u308b\u5148\u5929\u6027\u5185\u5206\u6ccc\u75be\u60a3\u3067\u3059\u3002LHX3\u95a2\u9023\u578b\uff08CPHD3\uff09\u306f\u3001\u4e0b\u5782\u4f53\u304a\u3088\u3073\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u767a\u751f\u306b\u95a2\u4e0e\u3059\u308b\u8ee2\u5199\u56e0\u5b50LHX3\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u51fa\u751f\u6642\u307e\u305f\u306f\u4e73\u5e7c\u5150\u671f\u304b\u3089\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6b20\u4e4f\u3001\u7532\u72b6\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u6b20\u4e4f\u3001\u526f\u814e\u76ae\u8cea\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u6b20\u4e4f\u3001\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u6b20\u4e4f\u306a\u3069\u304c\u51fa\u73fe\u3057\u3001\u4f4e\u8eab\u9577\u3001\u4f4e\u8840\u7cd6\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3001\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306a\u3069\u3092\u5448\u3057\u307e\u3059\u3002LHX3\u95a2\u9023\u578b\u3067\u306f\u9838\u90e8\u53ef\u52d5\u5236\u9650\u3084\u611f\u97f3\u6027\u96e3\u8074\u306a\u3069\u306e\u7279\u5fb4\u7684\u306a\u968f\u4f34\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h3>\n\n\n\n

\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7\u306f\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a\u6570\u4f8b\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002LHX3\u95a2\u9023\u578b\u306f\u305d\u306e\u4e2d\u3067\u3082\u3055\u3089\u306b\u7a00\u3067\u3001\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u4f8b\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h3>\n\n\n\n

\u672c\u75be\u60a3\u306fLHX3\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002LHX3\u907a\u4f1d\u5b50\u306f\u30d2\u30c89\u756a\u67d3\u8272\u4f53\uff089q34\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u4e0b\u5782\u4f53\u524d\u8449\u304a\u3088\u3073\u5185\u8033\u3001\u9838\u690e\u306e\u767a\u751f\u306b\u95a2\u4e0e\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308a\u4e0b\u5782\u4f53\u7d30\u80de\u306e\u5206\u5316\u304c\u969c\u5bb3\u3055\u308c\u3001\u8907\u6570\u306e\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u304c\u751f\u3058\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h3>\n\n\n\n

\u95a2\u9023\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7\u306f\u4e3b\u306b\u5185\u5206\u6ccc\u7570\u5e38\u3068\u767a\u80b2\u7570\u5e38\u3092\u5448\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u4e73\u5150\u671f<\/strong><\/p>\n\n\n\n

    \n
  • \u4f4e\u8840\u7cd6\u767a\u4f5c<\/li>\n\n\n\n
  • \u4f53\u91cd\u5897\u52a0\u4e0d\u826f<\/li>\n\n\n\n
  • \u9ec4\u75b8\u9077\u5ef6<\/li>\n<\/ul>\n\n\n\n

    \u5c0f\u5150\u671f<\/strong><\/p>\n\n\n\n

      \n
    • \u4f4e\u8eab\u9577\uff08\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6b20\u4e4f\uff09<\/li>\n\n\n\n
    • \u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306b\u3088\u308b\u5026\u6020\u611f\u3001\u4fbf\u79d8<\/li>\n\n\n\n
    • \u526f\u814e\u4e0d\u5168\u306b\u3088\u308b\u4f4e\u8840\u5727\u3001\u4f4e\u8840\u7cd6<\/li>\n\n\n\n
    • \u611f\u97f3\u6027\u96e3\u8074<\/li>\n\n\n\n
    • \u9838\u90e8\u53ef\u52d5\u57df\u5236\u9650<\/li>\n<\/ul>\n\n\n\n

      \u601d\u6625\u671f\u4ee5\u964d<\/strong><\/p>\n\n\n\n

        \n
      • \u4e8c\u6b21\u6027\u5fb4\u9045\u5ef6<\/li>\n\n\n\n
      • \u4e0d\u598a\u75c7<\/li>\n<\/ul>\n\n\n\n

        \u8a3a\u65ad<\/strong><\/h3>\n\n\n\n

        \u95a2\u9023\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7\u306e\u8a3a\u65ad\u306f\u4ee5\u4e0b\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n

        1. \u81e8\u5e8a\u6240\u898b<\/strong><\/p>\n\n\n\n

          \n
        • \u6210\u9577\u969c\u5bb3\u3001\u4f4e\u8840\u7cd6\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u72b6<\/li>\n\n\n\n
        • \u4e8c\u6b21\u6027\u5fb4\u9045\u5ef6<\/li>\n<\/ul>\n\n\n\n

          2. \u5185\u5206\u6ccc\u691c\u67fb<\/strong><\/p>\n\n\n\n

            \n
          • \u8907\u6570\u306e\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u4f4e\u5024<\/li>\n\n\n\n
          • \u672b\u68a2\u30db\u30eb\u30e2\u30f3\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n

            3. \u753b\u50cf\u691c\u67fb<\/strong><\/p>\n\n\n\n

              \n
            • MRI\u3067\u4e0b\u5782\u4f53\u4f4e\u5f62\u6210\u3092\u78ba\u8a8d<\/li>\n<\/ul>\n\n\n\n

              4. \u907a\u4f1d\u5b50\u8a3a\u65ad<\/strong><\/p>\n\n\n\n

                \n
              • LHX3\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad (PMC)<\/li>\n<\/ul>\n\n\n\n

                \u6cbb\u7642<\/strong><\/h3>\n\n\n\n

                \u73fe\u5728\u306e\u3068\u3053\u308d\u6839\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n

                  \n
                • \u6210\u9577\u30db\u30eb\u30e2\u30f3\u88dc\u5145<\/li>\n\n\n\n
                • \u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u88dc\u5145<\/li>\n\n\n\n
                • \u526f\u814e\u76ae\u8cea\u30db\u30eb\u30e2\u30f3\u88dc\u5145<\/li>\n\n\n\n
                • \u6027\u817a\u30db\u30eb\u30e2\u30f3\u88dc\u5145<\/li>\n\n\n\n
                • \u8074\u899a\u30fb\u6574\u5f62\u5916\u79d1\u7684\u30d5\u30a9\u30ed\u30fc<\/li>\n<\/ul>\n\n\n\n

                  \u6a19\u6e96\u6cbb\u7642\u306f\u5185\u5206\u6ccc\u7ba1\u7406\u3068\u767a\u80b2\u30fb\u767a\u9054\u652f\u63f4\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n

                  \u53c2\u8003\u6587\u732e<\/strong><\/h3>\n\n\n\n

                  \u95a2\u9023\u8907\u5408\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u75c7\uff08LHX3\uff09\u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
                  Machinis K et al. Mutations in LHX3 cause combined pituitary hormone deficiency with rigid cervical spine and sensorineural hearing loss. Nat Genet. 2001.(Nature)
                  Combined Pituitary Hormone Deficiency, LHX3-related \u2014 OMIM, Malacards.(malacards.org)
                  LHX3-related combined pituitary hormone deficiency \u2014 PubMed Central review.(PMC)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121752","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121752","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121752\/revisions"}],"predecessor-version":[{"id":125322,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121752\/revisions\/125322"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121752"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}