Department of Medicine, Harvard Medical School, Division of Endocrinology Diabetes and Hypertension, Brigham and Women's Hospital, Boston, USA.
Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101618. doi: 10.1016/j.beem.2022.101618. Epub 2022 Feb 5.
Puberty marks the end of childhood and is a period when individuals undergo physiological and psychological changes to achieve sexual maturation and fertility. The onset of puberty is first detected as an increase in pulsatile secretion of gonadotropin-releasing hormone (GnRH). Pubertal onset is regulated by genetic, nutritional, environmental, and socio-economic factors. Disturbances affecting pubertal timing result in adverse health conditions later in life. Human genetic studies show that around 50-80% of the variation in pubertal onset is genetically determined. The genetic control of pubertal timing has been a field of active investigation in attempt to better understand the neuroendocrine control of this relevant period of life. Large populational studies and patient cohort-based studies have provided insights into the genetic regulation of pubertal onset. In this review, we discuss these discoveries and discuss potential mechanisms for how implicated genes may affect pubertal timing.
青春期标志着童年的结束，是个体经历生理和心理变化以实现性成熟和生育能力的时期。青春期的开始首先表现为促性腺激素释放激素（GnRH）脉冲分泌的增加。青春期的开始受遗传、营养、环境和社会经济因素的调节。影响青春期开始时间的干扰会导致以后生活中的健康状况不佳。人类遗传研究表明，青春期开始的变化约有 50-80%是由遗传决定的。青春期开始的遗传控制一直是一个活跃的研究领域，旨在更好地理解这个生命相关时期的神经内分泌控制。大规模的人群研究和基于患者队列的研究提供了对青春期开始的遗传调控的深入了解。在这篇综述中，我们讨论了这些发现，并讨论了潜在的机制，说明这些相关基因如何影响青春期开始的时间。
