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class=\"wp-block-paragraph\">\u65e5\u672c\u306e\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u5148\u5929\u6027\u526f\u814e\u904e\u5f62\u6210\u75c7\u3092\u5bfe\u8c61\u306b17-OHP\u3068\u3044\u3046\u7269\u8cea\u3092\u6e2c\u3063\u3066\u3044\u307e\u3059\u304c\u3001<strong>\u3053\u306e\u578b\u3067\u306f17-OHP\u306e\u4e0a\u6607\u304c\u8efd\u3044\u3053\u3068\u304c\u3042\u308a\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3060\u3051\u3067\u306f\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059<\/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<strong>CYP11B1<\/strong> 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class=\"wp-block-paragraph\"><strong>\u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4e0d\u8db3\u3057\u3066\u3044\u308b\u30db\u30eb\u30e2\u30f3\u3092\u88dc\u3046\u6cbb\u7642\u3092\u751f\u6daf\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u75c7\u72b6\u3092\u6291\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong>\u6cbb\u7642\u306f\u5c0f\u5150\u5185\u5206\u6ccc\u306e\u5c02\u9580\u533b\u306e\u3082\u3068\u3067\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b0\u30eb\u30b3\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\uff08\u30d2\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u306a\u3069\uff09\u306e\u88dc\u5145<\/strong>\uff1a\u4e0d\u8db3\u3057\u3066\u3044\u308b\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u3092\u88dc\u3046\u3053\u3068\u3067\u526f\u814e\u3078\u306e\u904e\u5270\u306a\u523a\u6fc0\u304c\u6291\u3048\u3089\u308c\u3001\u7537\u6027\u30db\u30eb\u30e2\u30f3\u3084\u8840\u5727\u3092\u4e0a\u3052\u308b\u7269\u8cea\u306e\u7523\u751f\u3082\u6e1b\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u71b1\u30fb\u624b\u8853\u306a\u3069\u306e\u3068\u304d\u306e\u5897\u91cf\uff08\u30b9\u30c8\u30ec\u30b9\u6642\u306e\u5bfe\u5fdc\uff09<\/strong>\uff1a\u4f53\u8abf\u3092\u5d29\u3057\u305f\u3068\u304d\u306b\u85ac\u3092\u5897\u3084\u3059\u65b9\u6cd5\u3092\u3001\u3054\u5bb6\u65cf\u304c\u3042\u3089\u304b\u3058\u3081\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059<\/li>\n\n\n\n<li><strong>\u8840\u5727\u306e\u7ba1\u7406<\/strong>\uff1a\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u3067\u8840\u5727\u304c\u4e0b\u304c\u3089\u306a\u3044\u5834\u5408\u306f\u3001\u964d\u5727\u85ac\u3092\u4f75\u7528\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6210\u9577\u30fb\u601d\u6625\u671f\u306e\u5b9a\u671f\u7684\u306a\u8a55\u4fa1<\/strong>\uff1a\u8eab\u9577\u306e\u4f38\u3073\u3084\u9aa8\u5e74\u9f62\u3092\u898b\u306a\u304c\u3089\u85ac\u306e\u91cf\u3092\u8abf\u6574\u3057\u307e\u3059\u3002\u85ac\u304c\u591a\u3059\u304e\u3066\u3082\u5c11\u306a\u3059\u304e\u3066\u3082\u6210\u9577\u306b\u5f71\u97ff\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5916\u6027\u5668\u306b\u3064\u3044\u3066\u306e\u76f8\u8ac7<\/strong>\uff1a\u624b\u8853\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u3001\u884c\u3046\u6642\u671f\u306b\u3064\u3044\u3066\u306f\u3001\u5c02\u9580\u306e\u533b\u7642\u30c1\u30fc\u30e0\u3068\u3054\u5bb6\u65cf\u3067\u5341\u5206\u306b\u8a71\u3057\u5408\u3063\u3066\u6c7a\u3081\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u672c\u4eba\u30fb\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4<\/strong><\/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>CYP11B1<\/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\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>CYP11B1<\/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\">\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\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>CYP11B1<\/strong> \u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u819c\u306b\u5c40\u5728\u3059\u308b\u30b7\u30c8\u30af\u30ed\u30e0P450\u9175\u7d20\uff08P450c11\u03b2\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3001\u526f\u814e\u675f\u72b6\u5c64\u3067<strong>11-\u30c7\u30aa\u30ad\u30b7\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u3092\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u3078\u300111-\u30c7\u30aa\u30ad\u30b7\u30b3\u30eb\u30c1\u30b3\u30b9\u30c6\u30ed\u30f3\uff08DOC\uff09\u3092\u30b3\u30eb\u30c1\u30b3\u30b9\u30c6\u30ed\u30f3\u3078\u5909\u63db\u3059\u308b<\/strong>\u3002\u6b20\u640d\u306b\u3088\u308a\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u7523\u751f\u304c\u4f4e\u4e0b\u3057\u3001ACTH\u904e\u5270\u5206\u6ccc\u3092\u4ecb\u3057\u3066<strong>\u524d\u99c6\u4f53\u306e\u84c4\u7a4d\u3068\u526f\u814e\u30a2\u30f3\u30c9\u30ed\u30b2\u30f3\u306e\u904e\u5270\u7523\u751f<\/strong>\u304c\u751f\u3058\u308b\u3002<strong>DOC\u306f\u9271\u8cea\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u4f5c\u7528\u3092\u3082\u3064\u305f\u3081\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u8caf\u7559\u30fb\u4f53\u6db2\u91cf\u5897\u52a0\u30fb\u30ec\u30cb\u30f3\u6291\u5236\u3092\u7d4c\u3066\u4f4e\u30ec\u30cb\u30f3\u6027\u9ad8\u8840\u5727\u3092\u304d\u305f\u3059<\/strong>\u3002\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u5408\u6210\u306f CYP11B2 \u304c\u62c5\u3046\u305f\u3081\u4fdd\u305f\u308c\u3046\u308b\u304c\u3001\u4f53\u6db2\u91cf\u5897\u52a0\u306b\u3088\u308b\u30ec\u30cb\u30f3\u6291\u5236\u306e\u305f\u3081\u4f4e\u5024\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">CYP11B1 \u3068 CYP11B2 \u306f8q24.3\u306b\u7e26\u5217\u306b\u4e26\u3076\u76f8\u540c\u6027\u306e\u9ad8\u3044\u907a\u4f1d\u5b50\u3067\u3001<strong>\u4e0d\u7b49\u4ea4\u53c9\u306b\u3088\u308b CYP11B1\/CYP11B2 \u30ad\u30e1\u30e9\u907a\u4f1d\u5b50\u306f\u30b0\u30eb\u30b3\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u53cd\u5fdc\u6027\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u75c7\uff08\u5bb6\u65cf\u6027\u9ad8\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u75c7I\u578b\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff09\u3092\u8d77\u3053\u3059<\/strong>\u3002\u672c\u75c7\u306e\u75c5\u7684\u5909\u7570\u306f\u5168\u57df\u306b\u5206\u5e03\u3059\u308b\u304c\u3001<strong>\u30e2\u30ed\u30c3\u30b3\u7cfb\u30e6\u30c0\u30e4\u4eba\u3067\u306f\u5275\u59cb\u8005\u5909\u7570 p.Arg448His \u304c\u9ad8\u983b\u5ea6<\/strong>\u306b\u8a8d\u3081\u3089\u308c\u308b\u3002\u9ad8\u8840\u5727\u306e\u6709\u7121\u30fb\u91cd\u75c7\u5ea6\u3068 DOC \u5024\u3001\u5909\u7570\u306e\u6b8b\u5b58\u6d3b\u6027\u3068\u306e\u76f8\u95a2\u306f\u5fc5\u305a\u3057\u3082\u4e00\u81f4\u305b\u305a\u3001\u907a\u4f1d\u578b\u304b\u3089\u8868\u73fe\u578b\u3092\u6b63\u78ba\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u306f\u96e3\u3057\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u300121-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\uff08<em>CYP21A2<\/em>\u3001\u5869\u55aa\u5931\u30fb\u4f4e\u8840\u5727\u50be\u5411\uff09\u300117\u03b1-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\uff08<em>CYP17A1<\/em>\u3001\u9ad8\u8840\u5727\u3092\u4f34\u3046\u304c\u6027\u30b9\u30c6\u30ed\u30a4\u30c9\u4f4e\u4e0b\u306e\u305f\u3081\u5916\u6027\u5668\u7537\u6027\u5316\u306f\u8d77\u3053\u3089\u306a\u3044\uff09\u30013\u03b2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b9\u30c6\u30ed\u30a4\u30c9\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7\uff08<em>HSD3B2<\/em>\uff09\u3001P450\u9178\u5316\u9084\u5143\u9175\u7d20\u6b20\u640d\u75c7\uff08<em>POR<\/em>\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u51fa\u751f\u524d\u30c7\u30ad\u30b5\u30e1\u30bf\u30be\u30f3\u6295\u4e0e\u306b\u3088\u308b\u5973\u5150\u5916\u6027\u5668\u7537\u6027\u5316\u306e\u4e88\u9632\u306f\u3001\u80ce\u5150\u30fb\u6bcd\u4f53\u3078\u306e\u9577\u671f\u7684\u306a\u5b89\u5168\u6027\u304c\u78ba\u7acb\u3057\u3066\u304a\u3089\u305a\u3001\u81e8\u5e8a\u7814\u7a76\u306e\u67a0\u7d44\u307f\u3067\u306e\u307f\u691c\u8a0e\u3055\u308c\u308b\u3079\u304d\u3068\u3055\u308c\u3066\u3044\u308b\u3002<\/strong><\/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\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u7537\u306e\u5b50\u30fb\u5973\u306e\u5b50\u306e\u3069\u3061\u3089\u306b\u3082\u540c\u3058\u78ba\u7387\u3067\u8d77\u3053\u308a\u307e\u3059\u304c\u3001\u5973\u306e\u5b50\u3067\u306f\u751f\u307e\u308c\u305f\u3068\u304d\u306e\u5916\u6027\u5668\u306e\u5909\u5316\u3068\u3057\u3066\u6c17\u3065\u304b\u308c\u3084\u3059\u304f\u3001\u7537\u306e\u5b50\u3067\u306f\u5e7c\u5150\u671f\u307e\u3067\u6c17\u3065\u304b\u308c\u306b\u304f\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. 21-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u3069\u3061\u3089\u3082\u5148\u5929\u6027\u526f\u814e\u904e\u5f62\u6210\u75c7\u306e\u4ef2\u9593\u3067\u3059\u304c\u3001<strong>\u539f\u56e0\u306e\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059<\/strong>\u300221-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\u3067\u306f\u5869\u5206\u304c\u5931\u308f\u308c\u3066\u8840\u5727\u304c\u4e0b\u304c\u308a\u3084\u3059\u3044\u306e\u306b\u5bfe\u3057\u3001<strong>11\u03b2-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\u3067\u306f\u8840\u5727\u304c\u4e0a\u304c\u308a\u3084\u3059\u3044<\/strong>\u3053\u3068\u304c\u5927\u304d\u306a\u9055\u3044\u3067\u3059\u3002\u6cbb\u7642\u306e\u57fa\u672c\u306f\u3069\u3061\u3089\u3082\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u3067\u3059\u304c\u3001\u6ce8\u610f\u3059\u308b\u70b9\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u5225\u306e\u75c5\u6c17\u3082\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002CYP11B1 \u907a\u4f1d\u5b50\u304c\u96a3\u306e\u907a\u4f1d\u5b50\u3068\u3064\u306a\u304c\u3063\u305f\u5f62\u306b\u306a\u308b\u3068\u3001<strong>\u30b0\u30eb\u30b3\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u53cd\u5fdc\u6027\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u75c7<\/strong>\u3068\u3044\u3046\u3001\u9ad8\u8840\u5727\u3092\u4e3b\u306a\u75c7\u72b6\u3068\u3059\u308b\u5225\u306e\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u3061\u3089\u306f\u9855\u6027\u907a\u4f1d\u3067\u3001\u5916\u6027\u5668\u306e\u5909\u5316\u306f\u8d77\u3053\u308a\u307e\u305b\u3093\u3002<strong>\u907a\u4f1d\u306e\u3057\u304b\u305f\u3082\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u78ba\u7387\u3082\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u306f\u5c02\u9580\u5bb6\u3068\u4e00\u7dd2\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6cbb\u7642\u3092\u3059\u308c\u3070\u666e\u901a\u306e\u751f\u6d3b\u304c\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u65e9\u304f\u8a3a\u65ad\u3055\u308c\u3001\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u3092\u9069\u5207\u306b\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u65b9\u304c\u901a\u5b66\u30fb\u5c31\u52b4\u306a\u3069\u901a\u5e38\u306e\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u85ac\u306f\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u5fc5\u8981\u3067\u3001\u4f53\u8abf\u3092\u5d29\u3057\u305f\u3068\u304d\u306e\u5897\u91cf\u3084\u3001\u8840\u5727\u30fb\u6210\u9577\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u7d4c\u904e\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001\u4e3b\u6cbb\u533b\u3068\u3088\u304f\u76f8\u8ac7\u3057\u306a\u304c\u3089\u6cbb\u7642\u3092\u7d9a\u3051\u3066\u3044\u304d\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>OMIM #202010 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>White PC, Curnow KM, Pascoe L. Disorders of steroid 11\u03b2-hydroxylase isozymes. <em>Endocr Rev<\/em>. 1994;15(4):421-438.<\/li>\n\n\n\n<li>White PC, Dupont J, New MI, Leiberman E, Hochberg Z, R\u00f6sler A. A mutation in CYP11B1 (Arg-448\u2192His) associated with steroid 11\u03b2-hydroxylase deficiency in Jews of Moroccan origin. <em>J Clin Invest<\/em>. 1991;87(5):1664-1667.<\/li>\n\n\n\n<li>Khattab A, Haider S, Kumar A, et al. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency. <em>Proc Natl Acad Sci U S A<\/em>. 2017;114(10):E1933-E1940.<\/li>\n\n\n\n<li>Lifton RP, Dluhy RG, Powers M, et al. A chimaeric 11\u03b2-hydroxylase\/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. <em>Nature<\/em>. 1992;355(6357):262-265.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147510","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\/147510","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\/147510\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147510"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}