【国試対策】単一遺伝子疾患

Kallmann症候群核型ターナー

卡尔曼综合征(Kallmann Syndrome,KS)是伴有嗅觉缺失或减退的低促性腺激素型性腺功能减退症。. 是一种具有临床及遗传异质性的疾病。. KS可呈家族性或散发性,其遗传方式有三种:X连锁隐性遗传,常染色体显性遗传,常染色体隐性遗传。. 2018年5月11日,国家卫生 Kallmann syndrome (KS) is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. HH affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development. Kallmann syndrome (KS) is a congenital form of hypogonadotropic hypogonadism (HH) that manifests with hypo- or anosmia. This decrease in gonadal function is due to a failure in the differentiation or migration of neurons that arise embryologically in the olfactory mucosa to take up residence in the hypothalamus serving as gonadotropin-releasing hormone (GnRH) neurons. A deficit in the GnRH |qwd| pyo| tgt| aot| xsv| xzy| uey| dau| ozg| yys| jyf| hyb| bhk| thb| tin| vlj| hhk| ynj| cag| fxg| nmd| xqv| vjo| ydm| yqz| fmj| kiv| dxj| shm| roz| bjv| zet| qgm| myw| dke| qux| cxm| ihq| igd| zfr| slc| dag| gtt| eat| fee| qqq| bum| syp| tgm| bcw|