Gutiérrez-Amavizca Bianca Ethel, Figuera Luis E, Orozco-Castellanos Ricardo
Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara. División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Rev Med Inst Mex Seguro Soc. 2012 Mar-Apr;50(2):157-61.
Kallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. The hypogonadotropic hypogonadism is due to deficiency of gonadotropin-releasing hormone, caused by a defect in the migration of neurons synthesizing gonadotropin-releasing hormone, and anosmia/hyposmia is related to the absence or hypoplasia of the olfactory bulb and tracts. Some patients may have other associated abnormalities such as renal agenesis, cleft palate, dental agenesis, synkinesis, shortening of metacarpal, sensory neural hearing loss and seizures. The aim of this paper is to present an updated review of the clinical and molecular basis, highlighting the relevance of knowledge of phenotypic variants in Kallmann syndrome.
卡尔曼综合征的特征为低促性腺激素性性腺功能减退和嗅觉缺失/嗅觉减退。低促性腺激素性性腺功能减退是由于合成促性腺激素释放激素的神经元迁移缺陷导致促性腺激素释放激素缺乏所致，而嗅觉缺失/嗅觉减退与嗅球和嗅束的缺失或发育不全有关。一些患者可能有其他相关异常，如肾发育不全、腭裂、牙齿发育不全、联带运动、掌骨缩短、感音神经性听力损失和癫痫发作。本文的目的是对临床和分子基础进行更新综述，强调卡尔曼综合征表型变异知识的相关性。
