卡尔曼氏综合征(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,是一种临床基因突变及具有遗传异质性的疾病,患者表现为嗅觉缺失。男性呈宦官体形,外生殖器幼稚状态,睾丸小或隐睾,无青春期第二性征发育等。女性患者内外生殖器发育不良,青春期时无乳房发育等。目前该疾病只能通过长期用药维持体征与身体稳态,提高生活质量。 Kallmann’s Syndrome (KS) is a hypogonadotropic hypogonadism associated with loss of or absence of the sense of smell. It is a clinical gene mutation and genetic heterogeneity of the disease, the patient showed loss of smell. Men were eunuch body shape, genital mutilation, testicular small or cryptorchidism, no secondary development of puberty and so on. Female patients with internal and external genital dysplasia, no puberty, such as breast development. At present, the disease can only maintain the signs and physical homeostasis through long-term medication to improve the quality of life.