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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\u300121-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\u3092\u898b\u3064\u3051\u308b\u305f\u3081\u306b\u300c17-\u30d2\u30c9\u30ed\u30ad\u30b7\u30d7\u30ed\u30b2\u30b9\u30c6\u30ed\u30f3\u300d\u3068\u3044\u3046\u30db\u30eb\u30e2\u30f3\u3092\u6e2c\u308a\u307e\u3059\u3002<strong>\u3053\u306e\u578b\u3067\u306f\u3053\u306e\u30db\u30eb\u30e2\u30f3\u304c\u4e0a\u304c\u3089\u306a\u3044\u305f\u3081\u3001\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u898b\u3064\u304b\u3089\u306a\u3044\u3053\u3068\u304c\u591a\u3044<\/strong>\u70b9\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u51fa\u751f\u524d\u306b\u8abf\u3079\u305f\u6027\u67d3\u8272\u4f53\u3068\u3001\u8d85\u97f3\u6ce2\u3067\u898b\u3048\u308b\u5916\u6027\u5668\u306e\u5f62\u304c\u4e00\u81f4\u3057\u306a\u3044\u3053\u3068\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u6027\u5206\u5316\u306e\u9055\u3044\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u306a\u304b\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\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\u3053\u306e\u75c5\u6c17\u3067\u306f <strong>CYP17A1<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u4f3c\u305f\u75c7\u72b6\u3092\u793a\u3059\u5225\u306e\u75c5\u6c17\u3068\u898b\u5206\u3051\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\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>\u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u8db3\u308a\u306a\u3044\u30db\u30eb\u30e2\u30f3\u3092\u88dc\u3046\u6cbb\u7642\u3067\u3001\u8840\u5727\u3084\u30ab\u30ea\u30a6\u30e0\u3092\u6574\u3048\u3001\u4f53\u306e\u767a\u9054\u3092\u52a9\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong>\u6cbb\u7642\u306f\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u7d9a\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\u3001\u5185\u5206\u6ccc\u306e\u5c02\u9580\u533b\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u7d99\u7d9a\u7684\u306a\u901a\u9662\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u526f\u814e\u76ae\u8cea\u30db\u30eb\u30e2\u30f3\uff08\u7cd6\u8cea\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\uff09\u306e\u88dc\u5145<\/strong>\uff1a\u526f\u814e\u3078\u306e\u904e\u5270\u306a\u523a\u6fc0\u3092\u6291\u3048\u3001\u5869\u5206\u3092\u305f\u3081\u308b\u30db\u30eb\u30e2\u30f3\u3092\u6e1b\u3089\u3059\u3053\u3068\u3067\u3001\u8840\u5727\u3068\u30ab\u30ea\u30a6\u30e0\u306e\u6539\u5584\u3092\u3081\u3056\u3057\u307e\u3059\u3002\u91cf\u304c\u591a\u3059\u304e\u308b\u3068\u6210\u9577\u3084\u9aa8\u306b\u5f71\u97ff\u3059\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306b\u8abf\u6574\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8840\u5727\u306e\u7ba1\u7406<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u3001\u5869\u5206\u3092\u305f\u3081\u308b\u30db\u30eb\u30e2\u30f3\u306e\u306f\u305f\u3089\u304d\u3092\u6291\u3048\u308b\u85ac\u306a\u3069\u306e\u964d\u5727\u85ac\u3092\u4f75\u7528\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6027\u30db\u30eb\u30e2\u30f3\u306e\u88dc\u5145<\/strong>\uff1a\u601d\u6625\u671f\u306e\u5e74\u9f62\u306b\u5408\u308f\u305b\u3066\u5c11\u3057\u305a\u3064\u88dc\u3044\u3001\u4f53\u306e\u767a\u9054\u3068\u9aa8\u306e\u5065\u5eb7\u3092\u52a9\u3051\u307e\u3059\u3002\u88dc\u3046\u30db\u30eb\u30e2\u30f3\u306e\u7a2e\u985e\u306f\u3001\u80b2\u3066\u3089\u308c\u3066\u3044\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3084\u3054\u672c\u4eba\u306e\u610f\u5411\u306b\u5fdc\u3058\u3066\u6c7a\u3081\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6027\u817a\u306b\u3064\u3044\u3066\u306e\u76f8\u8ac7\uff0846,XY \u306e\u5834\u5408\uff09<\/strong>\uff1a\u304a\u306a\u304b\u306e\u4e2d\u306b\u3068\u3069\u307e\u3063\u305f\u7cbe\u5de3\u306f\u5c06\u6765\u816b\u760d\u304c\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u304a\u308a\u3001\u6458\u51fa\u306e\u8981\u5426\u3084\u6642\u671f\u3092\u5c02\u9580\u30c1\u30fc\u30e0\u3068\u76f8\u8ac7\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u75c5\u6c17\u3084\u3051\u304c\u306e\u3068\u304d\u306e\u5bfe\u5fdc<\/strong>\uff1a\u5f37\u3044\u30b9\u30c8\u30ec\u30b9\u304c\u304b\u304b\u308b\u3068\u304d\u306e\u85ac\u306e\u8abf\u6574\u306b\u3064\u3044\u3066\u3001\u3042\u3089\u304b\u3058\u3081\u4e3b\u6cbb\u533b\u3068\u6c7a\u3081\u3066\u304a\u304d\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u672c\u4eba\u30fb\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4<\/strong>\uff1a\u6027\u5206\u5316\u306b\u95a2\u308f\u308b\u8aac\u660e\u3092\u3001\u5e74\u9f62\u306b\u5408\u308f\u305b\u3066\u4e01\u5be7\u306b\u884c\u3046\u3053\u3068\u304c\u5927\u5207\u3067\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>CYP17A1<\/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>CYP17A1<\/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<strong>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\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>CYP17A1<\/strong> \u304c\u30b3\u30fc\u30c9\u3059\u308b P450c17 \u306f\u5c0f\u80de\u4f53\u306b\u5c40\u5728\u3059\u308b\u30b7\u30c8\u30af\u30ed\u30e0P450\u9175\u7d20\u3067\u3001<strong>17\u03b1-\u6c34\u9178\u5316\u6d3b\u6027\u306817,20-\u30ea\u30a2\u30fc\u30bc\u6d3b\u6027\u306e2\u3064\u3092\u5358\u4e00\u306e\u305f\u3093\u3071\u304f\u8cea\u3067\u62c5\u3046<\/strong>\u3002\u96fb\u5b50\u4f9b\u4e0e\u4f53\u3068\u3057\u3066 P450 \u30aa\u30ad\u30b7\u30c9\u30ec\u30c0\u30af\u30bf\u30fc\u30bc\uff08POR\uff09\u3092\u5fc5\u8981\u3068\u3057\u300117,20-\u30ea\u30a2\u30fc\u30bc\u6d3b\u6027\u306f\u30b7\u30c8\u30af\u30ed\u30e0 b5 \u306e\u5b58\u5728\u3068\u30bb\u30ea\u30f3\u6b8b\u57fa\u306e\u30ea\u30f3\u9178\u5316\u3067\u5897\u5f37\u3055\u308c\u308b\u3002\u526f\u814e\u675f\u72b6\u5c64\u30fb\u7db2\u72b6\u5c64\u3068\u6027\u817a\u3067\u767a\u73fe\u3057\u3001\u7403\u72b6\u5c64\u3067\u306f\u767a\u73fe\u3057\u306a\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u4e21\u6d3b\u6027\u3092\u6b20\u304f\u672c\u75c7\u3067\u306f\u3001<strong>\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u3068\u526f\u814e\u30fb\u6027\u817a\u30a2\u30f3\u30c9\u30ed\u30b2\u30f3\uff08\u304a\u3088\u3073\u305d\u308c\u306b\u7531\u6765\u3059\u308b\u30a8\u30b9\u30c8\u30ed\u30b2\u30f3\uff09\u306e\u7523\u751f\u304c\u969c\u5bb3<\/strong>\u3055\u308c\u3001ACTH \u904e\u5270\u523a\u6fc0\u306b\u3088\u308a<strong>11-\u30c7\u30aa\u30ad\u30b7\u30b3\u30eb\u30c1\u30b3\u30b9\u30c6\u30ed\u30f3\uff08DOC\uff09\u3068\u30b3\u30eb\u30c1\u30b3\u30b9\u30c6\u30ed\u30f3\u304c\u8457\u5897<\/strong>\u3059\u308b\u3002DOC \u306e\u9271\u8cea\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u4f5c\u7528\u306b\u3088\u308a<strong>\u4f4e\u30ec\u30cb\u30f3\u6027\u9ad8\u8840\u5727\u3068\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7<\/strong>\u3092\u304d\u305f\u3057\u3001\u30ec\u30cb\u30f3\u6291\u5236\u306e\u305f\u3081\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u306f\u4f4e\u5024\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3002<strong>\u30b3\u30eb\u30c1\u30b3\u30b9\u30c6\u30ed\u30f3\u304c\u7cd6\u8cea\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u4f5c\u7528\u3092\u4ee3\u511f\u3059\u308b\u305f\u3081\u3001\u526f\u814e\u30af\u30ea\u30fc\u30bc\u306f\u307e\u308c<\/strong>\u3067\u3042\u308b\u300217-\u30d2\u30c9\u30ed\u30ad\u30b7\u30d7\u30ed\u30b2\u30b9\u30c6\u30ed\u30f3\u304c\u4e0a\u6607\u3057\u306a\u3044\u305f\u3081\u3001<strong>17-OHP \u3092\u6307\u6a19\u3068\u3059\u308b\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u539f\u5247\u3068\u3057\u3066\u691c\u51fa\u3055\u308c\u306a\u3044<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u8868\u73fe\u578b\u306f\u6b8b\u5b58\u9175\u7d20\u6d3b\u6027\u306b\u4f9d\u5b58\u3059\u308b<\/strong>\u3002\u5b8c\u5168\u6b20\u640d\u3067\u306f 46,XY \u306f\u5973\u6027\u578b\u5916\u6027\u5668\uff08\u6027\u5206\u5316\u75be\u60a3\uff09\u300146,XX \u306f\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u308b\u539f\u767a\u6027\u7121\u6708\u7d4c\u3092\u5448\u3059\u308b\u300246,XY \u3067\u3082\u6297\u30df\u30e5\u30e9\u30fc\u7ba1\u30db\u30eb\u30e2\u30f3\u306f\u6b63\u5e38\u306b\u4f5c\u7528\u3059\u308b\u305f\u3081\u5b50\u5bae\u30fb\u5375\u7ba1\u306f\u5f62\u6210\u3055\u308c\u306a\u3044\u3002\u90e8\u5206\u6b20\u640d\u3067\u306f 46,XY \u306e\u5916\u6027\u5668\u306f\u3042\u3044\u307e\u3044\u578b\u3068\u306a\u308a\u3046\u308b\u3002\u4e00\u65b9\u3001<strong>\u9178\u5316\u9084\u5143\u30d1\u30fc\u30c8\u30ca\u30fc\u3068\u306e\u7d50\u5408\u90e8\u4f4d\u306e\u5909\u7570\u306a\u3069\u306717,20-\u30ea\u30a2\u30fc\u30bc\u6d3b\u6027\u306e\u307f\u304c\u9078\u629e\u7684\u306b\u4f4e\u4e0b\u3059\u308b\u300c17,20-\u30ea\u30a2\u30fc\u30bc\u5358\u72ec\u6b20\u640d\u75c7\u300d\u3067\u306f\u3001\u9271\u8cea\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u904e\u5270\u3092\u4f34\u308f\u305a\u6027\u30b9\u30c6\u30ed\u30a4\u30c9\u6b20\u4e4f\u306e\u307f\u3092\u793a\u3059<\/strong>\u3002\u8907\u6570\u306e\u96c6\u56e3\u3067\u5275\u59cb\u8005\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001POR\u6b20\u640d\u75c7\uff08<em>POR<\/em>\u3001\u9aa8\u683c\u7570\u5e38\u3092\u4f34\u3044\u3046\u308b\u300121-\u6c34\u9178\u5316\u9175\u7d20\u30fb17\u03b1-\u6c34\u9178\u5316\u9175\u7d20\u306e\u90e8\u5206\u7684\u8907\u5408\u6b20\u640d\uff09\u300111\u03b2-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\uff08<em>CYP11B1<\/em>\u3001\u9ad8\u8840\u5727\u3092\u5448\u3059\u308b\u304c\u30a2\u30f3\u30c9\u30ed\u30b2\u30f3\u904e\u5270\u306b\u3088\u308b\u7537\u6027\u5316\u3092\u4f34\u3046\uff09\u3001\u539f\u767a\u6027\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u75c7\u3001\u30ea\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u304a\u3088\u3073 46,XY \u6027\u5206\u5316\u75be\u60a3\u3068\u3057\u3066\u30a2\u30f3\u30c9\u30ed\u30b2\u30f3\u4e0d\u5fdc\u75c7\uff08<em>AR<\/em>\uff09\u300117\u03b2-\u6c34\u9178\u5316\u30b9\u30c6\u30ed\u30a4\u30c9\u8131\u6c34\u7d20\u9175\u7d203\u6b20\u640d\u75c7\uff08<em>HSD17B3<\/em>\uff09\u3001\u5148\u5929\u6027\u30ea\u30dd\u30a4\u30c9\u526f\u814e\u904e\u5f62\u6210\u75c7\uff08<em>STAR<\/em>\uff09\u306a\u3069\u304c\u6319\u304c\u308b\u3002<strong>\u9ad8\u8840\u5727\u30fb\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u3068\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u672c\u75c7\u3092\u5f37\u304f\u793a\u5506\u3057\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306b\u3088\u308a\u78ba\u5b9a\u3068\u6b21\u5b50\u518d\u767a\u7387\u306e\u8a55\u4fa1\u304c\u53ef\u80fd\u3068\u306a\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>\u304a\u5b50\u3055\u307e\u306e\u67d3\u8272\u4f53\u304c 46,XX \u3067\u3082 46,XY \u3067\u3082\u767a\u75c7\u3057\u5f97\u307e\u3059\u304c\u3001\u73fe\u308c\u65b9\u306f\u7570\u306a\u308a\u307e\u3059\u3002\u75c7\u72b6\u306e\u306a\u3044\u3054\u304d\u3087\u3046\u3060\u3044\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u306f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u898b\u3064\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u578b\u306f\u3001\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u898b\u3064\u304b\u3089\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u6e2c\u308b\u30db\u30eb\u30e2\u30f3\u304c\u3001\u3053\u306e\u578b\u3067\u306f\u4e0a\u304c\u3089\u306a\u3044\u305f\u3081\u3067\u3059\u3002\u3054\u5bb6\u65cf\u306b\u3053\u306e\u75c5\u6c17\u306e\u65b9\u304c\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3084\u5c02\u9580\u533b\u306b\u3088\u308b\u8a3a\u5bdf\u306b\u3064\u3044\u3066\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3088\u304f\u805e\u304f21-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\u3068\u306f\u4f55\u304c\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\u3067\u3059\u304c\u3001\u539f\u56e0\u306e\u907a\u4f1d\u5b50\u3068\u75c7\u72b6\u304c\u7570\u306a\u308a\u307e\u3059\u3002<strong>21-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\u306f\u5869\u5206\u304c\u5931\u308f\u308c\u3084\u3059\u304f\u3001\u7537\u6027\u30db\u30eb\u30e2\u30f3\u304c\u591a\u304f\u306a\u308b\u306e\u306b\u5bfe\u3057\u300117\u03b1-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\u306f\u5869\u5206\u304c\u305f\u307e\u3063\u3066\u8840\u5727\u304c\u4e0a\u304c\u308a\u3001\u6027\u30db\u30eb\u30e2\u30f3\u304c\u8db3\u308a\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>\u305d\u306e\u305f\u3081\u3001\u6c17\u3065\u304b\u308c\u308b\u6642\u671f\u3084\u6cbb\u7642\u306e\u5185\u5bb9\u3082\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5c06\u6765\u3001\u5b50\u3069\u3082\u3092\u3082\u3064\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u3067\u306f\u6027\u30db\u30eb\u30e2\u30f3\u3092\u3064\u304f\u308b\u529b\u304c\u5f31\u3044\u305f\u3081\u3001\u81ea\u7136\u306a\u598a\u5a20\u306f\u96e3\u3057\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>46,XX \u306e\u65b9\u3067\u306f\u3001\u751f\u6b96\u88dc\u52a9\u533b\u7642\u306b\u3088\u3063\u3066\u598a\u5a20\u30fb\u51fa\u7523\u306b\u81f3\u3063\u305f\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002\u72b6\u6cc1\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308b\u305f\u3081\u3001\u5185\u5206\u6ccc\u3084\u751f\u6b96\u533b\u7642\u306e\u5c02\u9580\u533b\u3068\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\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 #202110 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. <em>Endocr Rev<\/em>. 2011;32(1):81-151.<\/li>\n\n\n\n<li>Auchus RJ. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. <em>J Steroid Biochem Mol Biol<\/em>. 2017;165(Pt A):71-78.<\/li>\n\n\n\n<li>Biglieri EG, Herron MA, Brust N. 17-hydroxylation deficiency in man. <em>J Clin Invest<\/em>. 1966;45(12):1946-1954.<\/li>\n\n\n\n<li>Speiser PW, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. <em>J Clin Endocrinol Metab<\/em>. 2018;103(11):4043-4088.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147517","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\/147517","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\/147517\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147517"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}