{"id":147447,"date":"2026-11-03T03:46:26","date_gmt":"2026-11-02T18:46:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/adrenal-hypoplasia-congenital-nr0b1\/"},"modified":"2026-11-03T03:46:26","modified_gmt":"2026-11-02T18:46:26","slug":"adrenal-hypoplasia-congenital-nr0b1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/adrenal-hypoplasia-congenital-nr0b1\/","title":{"rendered":"\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\u306f\u3001<strong>\u751f\u307e\u308c\u3064\u304d\u526f\u814e\uff08\u814e\u81d3\u306e\u4e0a\u306b\u3042\u308b\u5c0f\u3055\u306a\u81d3\u5668\uff09\u304c\u5341\u5206\u306b\u80b2\u305f\u305a\u3001\u751f\u304d\u308b\u305f\u3081\u306b\u6b20\u304b\u305b\u306a\u3044\u30db\u30eb\u30e2\u30f3\u3092\u3064\u304f\u308c\u306a\u304f\u306a\u308b\u75c5\u6c17<\/strong>\u3067\u3059\u3002X\u9023\u9396\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>NR0B1<\/strong>\uff08Xp21.2\uff09\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001<strong>\u767a\u75c7\u3059\u308b\u306e\u306f\u4e3b\u306b\u7537\u306e\u5b50<\/strong>\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u526f\u814e\u304c\u3064\u304f\u308b\u30db\u30eb\u30e2\u30f3\u304c\u8db3\u308a\u306a\u3044\u3068\u3001<strong>\u4f53\u304b\u3089\u5869\u5206\u304c\u5931\u308f\u308c\u3001\u8840\u7cd6\u304c\u4e0b\u304c\u308a\u3001\u30b7\u30e7\u30c3\u30af\u72b6\u614b\uff08\u526f\u814e\u30af\u30ea\u30fc\u30bc\uff09\u306b\u9665\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/strong>\u3002<strong>\u591a\u304f\u306f\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u4e73\u5150\u671f\u306b\u3001\u54fa\u4e73\u4e0d\u826f\u30fb\u5614\u5410\u30fb\u8131\u6c34\u3067\u6c17\u3065\u304b\u308c\u307e\u3059<\/strong>\u304c\u3001\u306a\u304b\u306b\u306f\u5e7c\u5150\u671f\u3084\u5b66\u7ae5\u671f\u306b\u306a\u3063\u3066\u304b\u3089\u3001\u307e\u308c\u306b\u6210\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u898b\u3064\u304b\u308b\u65b9\u3082\u3044\u307e\u3059\u3002<strong>\u30db\u30eb\u30e2\u30f3\u3092\u88dc\u3046\u6cbb\u7642\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u65b9\u304c\u65e5\u5e38\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75c5\u6c17\u306e\u3082\u3046\u3072\u3068\u3064\u306e\u7279\u5fb4\u306f\u3001<strong>\u601d\u6625\u671f\u306b\u306a\u3063\u3066\u3082\u6027\u30db\u30eb\u30e2\u30f3\u3092\u51fa\u3059\u6307\u4ee4\u304c\u8133\u304b\u3089\u5341\u5206\u306b\u51fa\u306a\u3044\u300c\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u300d\u3092\u4f34\u3046\u3053\u3068<\/strong>\u3067\u3059\u3002\u526f\u814e\u306e\u75c5\u6c17\u3068\u601d\u6625\u671f\u306e\u9045\u308c\u304c\u7d44\u307f\u5408\u308f\u3055\u308b\u70b9\u304c\u3001\u307b\u304b\u306e\u526f\u814e\u306e\u75c5\u6c17\u3068\u306e\u5927\u304d\u306a\u9055\u3044\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">NR0B1 \u907a\u4f1d\u5b50\u306f\u3001\u5909\u5316\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u5225\u306e\u75c5\u6c17\u3092\u8d77\u3053\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<strong>\u907a\u4f1d\u5b50\u306e\u306f\u305f\u3089\u304d\u304c\u5931\u308f\u308c\u308b\u3068\u3053\u306e\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\u306b\u306a\u308a\u3001\u53cd\u5bfe\u306b\u907a\u4f1d\u5b50\u304c\u91cd\u8907\u3057\u3066\u591a\u3059\u304e\u308b\u3068\u3001\u67d3\u8272\u4f53\u304c\u7537\u6027\u578b\uff0846,XY\uff09\u3067\u3082\u4f53\u304c\u5973\u6027\u578b\u306b\u767a\u9054\u3059\u308b\u300c\u6027\u5206\u5316\u75be\u60a3\u300d\u3068\u306a\u308a\u307e\u3059\u3002<\/strong>\u307e\u305f\u3001\u8fd1\u304f\u306e\u907a\u4f1d\u5b50\u3082\u307e\u3068\u3081\u3066\u6b20\u3051\u308b\u3068\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3084\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>NR0B1<\/strong>\uff08DAX1\uff09\u306f\u3001\u307b\u304b\u306e\u907a\u4f1d\u5b50\u306e\u306f\u305f\u3089\u304d\u3092\u8abf\u7bc0\u3059\u308b<strong>\u300c\u6838\u5185\u53d7\u5bb9\u4f53\u300d\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3<\/strong>\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u305f\u3093\u3071\u304f\u8cea\u306f\u3001<strong>\u80ce\u5150\u671f\u306b\u526f\u814e\u304c\u6b63\u3057\u304f\u80b2\u3064\u305f\u3081\u306b\u5fc5\u8981<\/strong>\u306a\u3046\u3048\u3001<strong>\u8133\u306e\u8996\u5e8a\u4e0b\u90e8\u30fb\u4e0b\u5782\u4f53\u3084\u7cbe\u5de3\u306e\u306f\u305f\u3089\u304d\u306b\u3082\u95a2\u308f\u3063\u3066\u3044\u307e\u3059<\/strong>\u3002\u305d\u306e\u305f\u3081\u3001NR0B1 \u907a\u4f1d\u5b50\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u3001<strong>\u526f\u814e\u304c\u5c0f\u3055\u304f\u672a\u719f\u306a\u307e\u307e\u3068\u306a\u308a\u3001\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\uff08\u30b9\u30c8\u30ec\u30b9\u306b\u5bfe\u6297\u3059\u308b\u30db\u30eb\u30e2\u30f3\uff09\u3068\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\uff08\u4f53\u306b\u5869\u5206\u3092\u4fdd\u3064\u30db\u30eb\u30e2\u30f3\uff09\u3092\u3064\u304f\u308c\u307e\u305b\u3093<\/strong>\u3002\u3055\u3089\u306b\u3001\u601d\u6625\u671f\u306b\u6027\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u3092\u59cb\u3081\u308b\u6307\u4ee4\u3082\u3046\u307e\u304f\u51fa\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">NR0B1 \u907a\u4f1d\u5b50\u306fX\u67d3\u8272\u4f53\u306b\u3042\u308a\u307e\u3059\u3002\u7537\u306e\u5b50\u306fX\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u305f\u306a\u3044\u305f\u3081\u3001\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3050\u3068\u767a\u75c7\u3057\u307e\u3059\u3002\u5973\u306e\u5b50\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3064\u305f\u3081\u30011\u672c\u306b\u5909\u5316\u304c\u3042\u3063\u3066\u3082\u3001\u3075\u3064\u3046\u306f\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3068\u306a\u308a\u307e\u3059\u3002<strong>\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u306b\u3001\u7537\u306e\u5b50\u304c\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\uff08X\u9023\u9396\u6f5c\u6027\u907a\u4f1d\uff09\u3002<\/strong>\u306a\u304a\u3001\u3054\u4e21\u89aa\u306b\u5909\u5316\u304c\u306a\u304f\u3001\u304a\u5b50\u3055\u307e\u3067\u521d\u3081\u3066\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u8d77\u3053\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5869\u985e\u55aa\u5931\uff08\u5869\u5206\u304c\u5931\u308f\u308c\u308b\uff09<\/strong>\uff1a\u54fa\u4e73\u4e0d\u826f\u3001\u5614\u5410\u3001\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u3001\u8131\u6c34\u306a\u3069\u3067\u3001<strong>\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\u306b\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u75c7\u72b6\u3067\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u526f\u814e\u30af\u30ea\u30fc\u30bc<\/strong>\uff1a\u611f\u67d3\u75c7\u306a\u3069\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u8840\u5727\u4f4e\u4e0b\u30fb\u610f\u8b58\u969c\u5bb3\u30fb\u30b7\u30e7\u30c3\u30af\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u3001<strong>\u3059\u3050\u306b\u6cbb\u7642\u304c\u5fc5\u8981\u3067\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u4f4e\u8840\u7cd6<\/strong>\uff1a\u3050\u3063\u305f\u308a\u3059\u308b\u3001\u3051\u3044\u308c\u3093\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u306e\u8272\u304c\u6fc3\u304f\u306a\u308b\uff08\u8272\u7d20\u6c88\u7740\uff09<\/strong>\uff1a\u526f\u814e\u3092\u523a\u6fc0\u3059\u308b\u30db\u30eb\u30e2\u30f3\u304c\u904e\u5270\u306b\u51fa\u308b\u305f\u3081\u3067\u3059<\/li>\n\n\n\n<li><strong>\u601d\u6625\u671f\u304c\u59cb\u307e\u3089\u306a\u3044\u3001\u307e\u305f\u306f\u9014\u4e2d\u3067\u6b62\u307e\u308b<\/strong>\uff1a\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306b\u3088\u308b\u3082\u306e\u3067\u3001<strong>\u3053\u306e\u75c5\u6c17\u306b\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3067\u3059<\/strong><\/li>\n\n\n\n<li>\u7537\u6027\u4e0d\u598a\uff1a\u7cbe\u5b50\u3092\u3064\u304f\u308b\u529b\u304c\u5f31\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u75c7\u6642\u671f\u306b\u306f\u5e45\u304c\u3042\u308b<\/strong>\uff1a\u591a\u304f\u306f\u4e73\u5150\u671f\u3067\u3059\u304c\u3001\u5e7c\u5150\u671f\u30fb\u5b66\u7ae5\u671f\u3001\u307e\u308c\u306b\u6210\u4eba\u671f\u306b\u898b\u3064\u304b\u308b\u65b9\u3082\u3044\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<p class=\"wp-block-paragraph\">\u4e00\u822c\u306b\u3001<strong>\u7537\u306e\u5b50\u306e\u5916\u6027\u5668\u306f\u751f\u307e\u308c\u305f\u3068\u304d\u306b\u306f\u3075\u3064\u3046\u306e\u7537\u306e\u5b50\u3068\u540c\u3058\u898b\u305f\u76ee<\/strong>\u3067\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u306e\u5973\u6027\u306f\u901a\u5e38\u75c7\u72b6\u304c\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u307e\u308c\u306b\u601d\u6625\u671f\u306e\u9045\u308c\u306a\u3069\u304c\u898b\u3089\u308c\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u8840\u6db2\u691c\u67fb<\/strong>\u3067\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u304c\u4f4e\u304f\u30ab\u30ea\u30a6\u30e0\u304c\u9ad8\u3044\u3001\u8840\u7cd6\u304c\u4f4e\u3044\u3001\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u3084\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u304c\u4f4e\u3044\u306e\u306b\u526f\u814e\u3092\u523a\u6fc0\u3059\u308b\u30db\u30eb\u30e2\u30f3\uff08ACTH\uff09\u3084\u30ec\u30cb\u30f3\u304c\u9ad8\u3044\u3001\u3068\u3044\u3063\u305f\u6240\u898b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002\u8d85\u97f3\u6ce2\u3084CT\u3067\u526f\u814e\u304c\u5c0f\u3055\u304f\u898b\u3048\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u4e73\u5150\u671f\u306e\u526f\u814e\u4e0d\u5168\u3067\u306f\u3001\u3088\u308a\u983b\u5ea6\u306e\u9ad8\u3044<strong>\u5148\u5929\u6027\u526f\u814e\u904e\u5f62\u6210\u75c7\uff0821-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\u306a\u3069\uff09\u3068\u306e\u533a\u5225\u304c\u91cd\u8981<\/strong>\u3067\u3059\u3002\u5148\u5929\u6027\u526f\u814e\u904e\u5f62\u6210\u75c7\u3067\u306f\u526f\u814e\u306e\u9014\u4e2d\u3067\u3064\u304f\u3089\u308c\u308b\u7269\u8cea\uff0817-\u30d2\u30c9\u30ed\u30ad\u30b7\u30d7\u30ed\u30b2\u30b9\u30c6\u30ed\u30f3\u306a\u3069\uff09\u304c\u5897\u3048\u307e\u3059\u304c\u3001<strong>\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\u3067\u306f\u5897\u3048\u307e\u305b\u3093<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\u3067\u306f <strong>NR0B1<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\uff08\u307e\u305f\u306f\u6b20\u5931\uff09\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u601d\u6625\u671f\u306e\u898b\u901a\u3057\u3084\u3001\u304a\u6bcd\u3055\u307e\u30fb\u3054\u304d\u3087\u3046\u3060\u3044\u30fb\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u3092\u304a\u4f1d\u3048\u3059\u308b\u305f\u3081\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u526f\u814e\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u73fe\u6642\u70b9\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u8db3\u308a\u306a\u3044\u30db\u30eb\u30e2\u30f3\u3092\u85ac\u3067\u88dc\u3046\u3053\u3068\u3067\u75c7\u72b6\u3092\u6291\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong>\u6cbb\u7642\u306f\u751f\u6daf\u306b\u308f\u305f\u308a\u7d9a\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\u3001\u5c0f\u5150\u5185\u5206\u6ccc\u306e\u5c02\u9580\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7cd6\u8cea\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u306e\u88dc\u5145<\/strong>\uff1a\u30d2\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\u306a\u3069\u3067\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u3092\u88dc\u3044\u307e\u3059\u3002\u6210\u9577\u3078\u306e\u5f71\u97ff\u306b\u6c17\u3092\u3064\u3051\u306a\u304c\u3089\u91cf\u3092\u8abf\u6574\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u9271\u8cea\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u306e\u88dc\u5145\u3068\u5869\u5206\u306e\u88dc\u7d66<\/strong>\uff1a\u30d5\u30eb\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\u3067\u5869\u5206\u3092\u4fdd\u3064\u306f\u305f\u3089\u304d\u3092\u88dc\u3044\u3001\u4e73\u5150\u671f\u306b\u306f\u98df\u5869\u3092\u52a0\u3048\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u4f53\u8abf\u3092\u5d29\u3057\u305f\u3068\u304d\u306e\u5897\u91cf\uff08\u30b7\u30c3\u30af\u30c7\u30a4\u5bfe\u5fdc\uff09<\/strong>\uff1a\u767a\u71b1\u30fb\u5614\u5410\u30fb\u3051\u304c\u30fb\u624b\u8853\u306e\u3068\u304d\u306f\u85ac\u3092\u5897\u3084\u3057\u3001\u98f2\u3081\u306a\u3044\u3068\u304d\u306f\u6ce8\u5c04\u3067\u88dc\u3044\u307e\u3059\u3002<strong>\u3054\u5bb6\u65cf\u304c\u3042\u3089\u304b\u3058\u3081\u5bfe\u5fdc\u3092\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u3001\u526f\u814e\u30af\u30ea\u30fc\u30bc\u3092\u9632\u3050\u3046\u3048\u3067\u3068\u3066\u3082\u91cd\u8981\u3067\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u601d\u6625\u671f\u306e\u8a98\u5c0e<\/strong>\uff1a\u601d\u6625\u671f\u306e\u6642\u671f\u306b\u3001\u7537\u6027\u30db\u30eb\u30e2\u30f3\u306a\u3069\u306e\u6cbb\u7642\u3067\u4f53\u306e\u767a\u80b2\u3092\u4fc3\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u4e0d\u598a\u306b\u3064\u3044\u3066\u306e\u76f8\u8ac7<\/strong>\uff1a\u6210\u4eba\u5f8c\u306b\u3001\u751f\u6b96\u533b\u7642\u306e\u5c02\u9580\u5bb6\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002\u304a\u5b50\u3055\u307e\u3092\u6388\u304b\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u5834\u5408\u3082\u591a\u3044\u3068\u3055\u308c\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>NR0B1<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>NR0B1<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">X\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u304a\u6bcd\u3055\u307e\u304c\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u7537\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\uff08\u5973\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u307e\u3059\uff09\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>NR0B1<\/strong>\uff08DAX1\uff09\u306f<strong>\u5178\u578b\u7684\u306aDNA\u7d50\u5408\u30c9\u30e1\u30a4\u30f3\u3092\u6b20\u304f\u7279\u6b8a\u306a\u6838\u5185\u53d7\u5bb9\u4f53<\/strong>\u3067\u3001NR5A1\uff08SF-1\uff09\u306a\u3069\u306e\u8ee2\u5199\u56e0\u5b50\u306b\u7d50\u5408\u3057\u3066\u305d\u306e\u4f5c\u7528\u3092\u8abf\u7bc0\u3059\u308b\u3002\u526f\u814e\u76ae\u8cea\u3001\u6027\u817a\u3001\u8996\u5e8a\u4e0b\u90e8\u30fb\u4e0b\u5782\u4f53\u306b\u767a\u73fe\u3057\u3001<strong>\u526f\u814e\u306e\u80ce\u751f\u671f\u76ae\u8cea\uff08\u80ce\u5150\u5c64\uff09\u304b\u3089\u6c38\u4e45\u76ae\u8cea\u3078\u306e\u767a\u9054\u306b\u5fc5\u9808<\/strong>\u3067\u3042\u308b\u3002\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u3067\u306f\u6c38\u4e45\u76ae\u8cea\u304c\u5f62\u6210\u3055\u308c\u305a\u3001\u7d44\u7e54\u5b66\u7684\u306b\u306f\u5927\u578b\u306e\u7a7a\u80de\u5316\u7d30\u80de\u304b\u3089\u306a\u308b\u300c\u30b5\u30a4\u30c8\u30e1\u30ac\u30ea\u30fc\u578b\u300d\u306e\u526f\u814e\u4f4e\u5f62\u6210\u3092\u5448\u3059\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u672c\u75c7\u306f\u539f\u767a\u6027\u526f\u814e\u4e0d\u5168\u3068\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306e\u5408\u4f75\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002<\/strong>\u5f8c\u8005\u306f\u8996\u5e8a\u4e0b\u90e8\u3068\u4e0b\u5782\u4f53\u306e\u53cc\u65b9\u306e\u969c\u5bb3\u306b\u3088\u308b\u3068\u3055\u308c\u3001\u52a0\u3048\u3066\u7cbe\u5de3\u81ea\u4f53\u306e\u9020\u7cbe\u969c\u5bb3\u3082\u4f34\u3046\u305f\u3081\u3001\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u7642\u6cd5\u306b\u53cd\u5fdc\u3057\u306b\u304f\u3044\u7121\u7cbe\u5b50\u75c7\u304c\u591a\u3044\u3002<strong>\u5909\u7570\u306f\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u306a\u3069\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u304c\u4e3b\u4f53\u3067\u3001\u907a\u4f1d\u5b50\u5168\u4f53\u306e\u6b20\u5931\u3082\u3042\u308b\u3002<\/strong>Xp21 \u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u3067\u306f\u3001<em>GK<\/em>\uff08\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff09\u3001<em>DMD<\/em>\uff08\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff09\u3092\u5408\u4f75\u3059\u308b\u3002<strong>\u4e00\u65b9\u3001NR0B1 \u3092\u542b\u3080\u9818\u57df\u306e\u91cd\u8907\u306f\u7528\u91cf\u611f\u53d7\u6027\u306e\u6027\u9006\u8ee2\uff0846,XY \u6027\u5206\u5316\u75be\u60a3\uff09\u3092\u8d77\u3053\u3057\u3001\u540c\u3058\u907a\u4f1d\u5b50\u3067\u3082\u91cf\u306e\u5897\u6e1b\u3067\u8868\u73fe\u578b\u304c\u6b63\u53cd\u5bfe\u306b\u306a\u308b\u3002<\/strong>\u8efd\u75c7\u5909\u7570\u3067\u306f\u5e7c\u5150\u671f\u4ee5\u964d\u30fb\u6210\u4eba\u671f\u767a\u75c7\u3084\u3001\u526f\u814e\u6a5f\u80fd\u304c\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u5148\u5929\u6027\u526f\u814e\u904e\u5f62\u6210\u75c7\uff08<em>CYP21A2<\/em>\u3001<em>STAR<\/em> \u306a\u3069\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff09\u3001<em>NR5A1<\/em> \u7570\u5e38\u75c7\u3001IMAGe \u75c7\u5019\u7fa4\uff08<em>CDKN1C<\/em>\uff09\u3001\u5bb6\u65cf\u6027\u30b0\u30eb\u30b3\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u6b20\u640d\u75c7\uff08<em>MC2R<\/em>\u3001<em>MRAP<\/em>\uff09\u3001\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08<em>ABCD1<\/em>\u3001X\u9023\u9396\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u30fb\u5408\u4f75\u75c7\u30fb\u6b21\u5b50\u518d\u767a\u7387\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u6cbb\u7642\u65b9\u91dd\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong>\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308c\u3070\u7537\u5150\u306e\u518d\u767a\u7387\u306f50%\u3067\u3042\u308a\u3001\u672a\u8a3a\u65ad\u306e\u7537\u6027\u8840\u7e01\u8005\u306b\u5bfe\u3059\u308b\u8a55\u4fa1\uff08\u6f5c\u5728\u6027\u526f\u814e\u4e0d\u5168\u306e\u65e9\u671f\u767a\u898b\uff09\u3082\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306fX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u7537\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u3001\u5973\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u3001\u304a\u5b50\u3055\u307e\u3067\u65b0\u305f\u306b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u8d77\u304d\u305f\u5834\u5408\u306f\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u518d\u767a\u7387\u306f\u4f4e\u304f\u306a\u308a\u307e\u3059\u3002<strong>\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u898b\u901a\u3057\u3092\u3088\u308a\u6b63\u78ba\u306b\u304a\u4f1d\u3048\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5973\u306e\u5b50\u306f\u767a\u75c7\u3057\u306a\u3044\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5973\u306e\u5b50\u306f\u591a\u304f\u306e\u5834\u5408\u3001\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u307e\u308c\u306b\u601d\u6625\u671f\u306e\u9045\u308c\u306a\u3069\u304c\u898b\u3089\u308c\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5c02\u9580\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6cbb\u7642\u3092\u7d9a\u3051\u308c\u3070\u3075\u3064\u3046\u306e\u751f\u6d3b\u304c\u9001\u308c\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u30db\u30eb\u30e2\u30f3\u3092\u88dc\u3046\u85ac\u3092\u6bce\u65e5\u304d\u3061\u3093\u3068\u7d9a\u3051\u3001\u4f53\u8abf\u3092\u5d29\u3057\u305f\u3068\u304d\u306b\u85ac\u3092\u5897\u3084\u3059\u5bfe\u5fdc\u304c\u3067\u304d\u308c\u3070\u3001\u591a\u304f\u306e\u65b9\u304c\u901a\u5712\u30fb\u901a\u5b66\u306a\u3069\u65e5\u5e38\u751f\u6d3b\u3092\u9001\u308c\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u526f\u814e\u30af\u30ea\u30fc\u30bc\u306f\u547d\u306b\u95a2\u308f\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u3054\u5bb6\u65cf\u3084\u5468\u56f2\u306e\u65b9\u304c\u7dca\u6025\u6642\u306e\u5bfe\u5fdc\u3092\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u601d\u6625\u671f\u3084\u5c06\u6765\u306e\u598a\u5a20\u30fb\u51fa\u7523\u306f\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306e\u7537\u306e\u5b50\u306f\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u81ea\u7136\u306b\u306f\u601d\u6625\u671f\u304c\u59cb\u307e\u3089\u306a\u3044\u305f\u3081\u3001\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u3067\u4f53\u306e\u767a\u80b2\u3092\u4fc3\u3057\u307e\u3059\u3002<\/strong>\u6210\u4eba\u5f8c\u306f\u7cbe\u5b50\u3092\u3064\u304f\u308b\u529b\u304c\u5f31\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u304a\u5b50\u3055\u307e\u3092\u6388\u304b\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u751f\u6b96\u533b\u7642\u306e\u5c02\u9580\u5bb6\u3068\u65e9\u3081\u306b\u76f8\u8ac7\u3059\u308b\u3053\u3068\u3092\u304a\u3059\u3059\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Achermann JC, Vilain EJ. NR0B1-Related Adrenal Hypoplasia Congenita. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #300200 Adrenal hypoplasia, congenital; AHC. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Zanaria E, Muscatelli F, Bardoni B, et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. <em>Nature<\/em>. 1994;372(6507):635-641.<\/li>\n\n\n\n<li>Muscatelli F, Strom TM, Walker AP, et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. <em>Nature<\/em>. 1994;372(6507):672-676.<\/li>\n\n\n\n<li>Lin L, Gu WX, Ozisik G, et al. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years&#8217; experience. <em>J Clin Endocrinol Metab<\/em>. 2006;91(8):3048-3054.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147447","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\/147447","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":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147447\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147447"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}