John H, Schmid C
Department of Urology, Zürich University Hospital, Switzerland.
Int J Impot Res. 2000 Apr;12(2):121-3. doi: 10.1038/sj.ijir.3900493.
Hypogonadotropic patients may visit pediatricians, general practitioners, endocrinologists or urologists, presenting with microphallus, cryptochidism or pubertas tarda and delayed bone maturation. Congenital hypogonadotropic hypogonadism is characterized, apart from small testes, by the constellation of low serum levels of testosterone, LH and FSH. Kallman's syndrome is characterized by congenital hypogonadotropic hypogonadism with midline defects such as anosmia (a deficiency of the sense of smell). The first case report dates back to 1856, and genetic defects causing the syndrome have been recently described. The diagnosis can be clinically suspected and is established by confirming hormonal studies.
低促性腺激素性患者可能会就诊于儿科医生、全科医生、内分泌科医生或泌尿科医生，表现为小阴茎、隐睾或青春期延迟以及骨成熟延迟。先天性低促性腺激素性性腺功能减退的特征除了睾丸小之外，还包括血清睾酮、促黄体生成素（LH）和促卵泡生成素（FSH）水平低。卡尔曼综合征的特征是先天性低促性腺激素性性腺功能减退并伴有中线缺陷，如嗅觉缺失（嗅觉减退）。首例病例报告可追溯到1856年，导致该综合征的基因缺陷最近已被描述。该诊断可通过临床怀疑，并通过确认激素研究来确立。
