Fathi Aws K, Luo Xiaoping
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
J Pediatr Endocrinol Metab. 2013;26(5-6):405-15. doi: 10.1515/jpem-2013-0061.
What controls puberty remains largely unknown, and current gene mutations account for only about one-third of the apparently genetic cases of idiopathic hypogonadotropic hypogonadism. Lately, important developments have occurred in this field.
The neuroendocrine control of reproduction in all mammals is governed by a hypothalamic neural network of approximately 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that control the activity of the reproductive axis across life. Recently, the syndrome of human GnRH deficiency, either with anosmia, termed Kallmann syndrome, or with a normal sense of smell, termed normosmic idiopathic hypogonadotropic hypogonadism, has proven to be important disease models that have revealed much about the abnormalities that can befall the GnRH neurons as they differentiate, migrate, form networks, mature and senesce. Mutations in several genes responsible for these highly coordinated developmental processes have thus been unearthed by the study of this prismatic disease model. These genetic studies have opened up a new chapter in the physiology and the pharmacology of the gonadotropic axis.
青春期启动的调控机制在很大程度上仍不清楚，目前已知的基因突变仅占特发性低促性腺激素性性腺功能减退明显遗传病例的约三分之一。最近，该领域有了重要进展。
所有哺乳动物的生殖神经内分泌调控由一个约1500个分泌促性腺激素释放激素（GnRH）的神经元组成的下丘脑神经网络控制，该网络在整个生命过程中控制生殖轴的活动。最近，人类GnRH缺乏综合征，无论是伴有嗅觉丧失（称为卡尔曼综合征）还是嗅觉正常（称为嗅觉正常的特发性低促性腺激素性性腺功能减退），都已被证明是重要的疾病模型，揭示了GnRH神经元在分化、迁移、形成网络、成熟和衰老过程中可能出现的许多异常情况。通过对这个典型疾病模型的研究，已经发现了几个负责这些高度协调发育过程的基因突变。这些遗传学研究为促性腺激素轴的生理学和药理学开辟了新篇章。
