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Kallmann综合征(简称KS)是一种较常见的遗传性单纯性促性腺激素释放激素(GnRH)缺乏症,可分为家族型KS和散发型KS两型。临床主要表现为性腺发育障碍、性征表现不明显及嗅觉丧失。而无嗅觉障碍者则称为特发性促性腺激素型性腺发育不全(IHH)。家族型KS患者的遗传模式可表现为常染色体显性、常染色体阴性及X连锁遗传。该病主要发病机制涉及胚胎发育中GnRH神经元由嗅板移至下丘脑的过程障碍,致使下丘脑GnRH分泌缺陷及嗅神经萎缩。上海第二医科大学瑞金医院于1999年7月～2002年3月选择了27例临床表现为外生殖器发育不良伴(或不伴)先天性嗅觉功能障碍
Kallmann’s syndrome (KS) is a relatively common hereditary simple gonadotropin-releasing hormone (GnRH) deficiency, which can be divided into familial KS and sporadic KS. Clinical manifestations of gonadal development disorders, sexual performance was not obvious and loss of smell. Those with no sense of smell are called idiopathic gonadotropin-type gonadal dysplasia (IHH). The genetic pattern of familial KS patients can be characterized by autosomal dominant, autosomal negative and X-linked inheritance. The main pathogenesis of the disease involves the process of embryonic development GnRH neurons moved from the olfactory plate process to the hypothalamus, resulting in hypothalamic GnRH secretion defects and olfactory nerve atrophy. Ruijin Hospital of Shanghai Second Medical University from July 1999 to March 2002 selected 27 cases of clinical manifestations of genital hypoplasia with or without congenital olfactory dysfunction