卡尔曼综合征
来自心百科，心灵的百科全书
模板:Medical 模板:Infobox medical condition卡尔曼综合征是一种罕见的遗传性疾病，其特点患者是无法进入青春期或青春期发育不完全。该疾病也伴随着嗅觉丧失或嗅觉减退。此种疾病男女皆可发病，但多见于男性。患者若不进行治疗大多会出现不育的情况。[1][2][3]
卡尔曼综合征的产生是由于在胚胎发育过程中促性腺激素释放激素释放神经元无法迁移到正确的位置，导致下丘脑无法在适当的时间释放促性腺激素释放激素。[4][5]
卡尔曼综合征是性腺机能减退的一种形式。在出现性腺机能减退且伴随嗅觉丧失的人群中约有50％被列为卡尔曼综合征。除去嗅觉丧失的症状，针对卡尔曼综合征和性腺机能减退的诊疗并没有什么区别。[6][7]
参考文献
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- ^ Valdes-Socin, Hernan; Rubio Almanza, Matilde; Tomé Fernández-Ladreda, Mariana; Debray, François Guillaume; Bours, Vincent; Beckers, Albert (2014-01-01). "Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes". Neuroendocrine Science. 5: 109. doi:10.3389/fendo.2014.00109. PMC 4088923. PMID 25071724.
- ^ Boehm, Ulrich; Bouloux, Pierre-Marc; Dattani, Mehul T.; de Roux, Nicolas; Dodé, Catherine; Dunkel, Leo; Dwyer, Andrew A.; Giacobini, Paolo; Hardelin, Jean-Pierre (2015-09-01). "Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment". Nature Reviews. Endocrinology. 11 (9): 547–564. doi:10.1038/nrendo.2015.112. ISSN 1759-5037. PMID 26194704.
- ^ Guo, C. Y.; Jones, T. H.; Eastell, R. (1997-02-01). "Treatment of isolated hypogonadotropic hypogonadism effect on bone mineral density and bone turnover". The Journal of Clinical Endocrinology and Metabolism. 82 (2): 658–665. doi:10.1210/jcem.82.2.3758. ISSN 0021-972X. PMID 9024272.