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What controls the timing of puberty? An update on progress from genetic investigation.

机译:什么因素控制青春期的时间?基因研究的最新进展。

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PURPOSE OF REVIEW: Puberty is an important developmental stage during which reproductive capacity is attained. Genetic and environmental factors both influence the timing of puberty, which varies greatly among individuals. However, although genetic variation is known to influence the normal spectrum of pubertal timing, the specific genes involved remain unknown. RECENT FINDINGS: Recent genetic analyses have identified a number of genes responsible for rare disorders of pubertal timing such as hypogonadotropic hypogonadism and Kallmann syndrome. However, although the genetic basis of population variation in the timing of puberty is an active area of investigation, no genetic loci have been reproducibly associated with pubertal timing thus far. SUMMARY: This review provides an update of the genes implicated in disorders of puberty, discusses genes and pathways that may be involved in the timing of normal puberty, and suggests additional avenues of investigation to identify genetic regulators of puberty in the general population.
机译:审查的目的:青春期是一个重要的发育阶段,在此阶段可以达到生殖能力。遗传因素和环境因素都影响青春期的时机,这在个体之间差异很大。但是,尽管已知遗传变异会影响青春期正常时间的正常分布,但是所涉及的特定基因仍然未知。最近的发现:最近的遗传分析已经鉴定出许多与少见的性腺机能失调有关的基因,例如性腺功能低下性腺机能减退症和Kallmann综合征。然而,尽管青春期时机人口变异的遗传基础是一个活跃的研究领域,但到目前为止,还没有基因位点可重复地与青春期时机相关。摘要:这篇综述提供了与青春期疾病有关的基因的更新,讨论了可能与正常青春期有关的基因和途径,并提出了其他研究途径以鉴定普通人群中的青春期遗传调控因子。

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