别名 FMPP、Familial Gonadotrophin-Independent Sexual Precocity、Familial Male-Limited Precocious Puberty + [20] |
简介 A very rare gonadotropin-independent familial form of male-limited precocious puberty generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Caused by an activating mutation of the Lutropin-Choriogonadotropic Hormone Receptor gene (LHCGR, 2p21) which leads to increased levels of sex steroids in the context of low luteinising hormone. This receptor's chronic activation leads to precocious testosterone production by Leydig cells. No effect is observed in female carriers due to the dual luteinising hormone (LH)/ follicle stimulating hormone (FSH) signal necessary to promote ovarian stimulation. Transmission is autosomal dominant. Mothers may act as silent carriers, with each son having a 50% chance of displaying this disorder. |
靶点 |
作用机制 GnRHR激动剂 |
在研机构 |
原研机构 |
最高研发阶段批准上市 |
首次获批国家/地区 韩国 |
首次获批日期1996-11-04 |
作用机制 aromatase抑制剂 |
在研机构 |
原研机构 |
在研适应症 |
最高研发阶段批准上市 |
首次获批国家/地区 美国 |
首次获批日期1995-12-27 |
靶点 |
作用机制 AR拮抗剂 |
在研机构 |
原研机构 |
最高研发阶段批准上市 |
首次获批国家/地区 英国 |
首次获批日期1995-02-23 |
开始日期2006-12-19 |
申办/合作机构 |
开始日期2006-01-02 |
开始日期2004-11-22 |
申办/合作机构 |