Genetics of pubertal timing. Issue 1 (January 2022)

• Record Type: Journal Article
• Authors: Mancini, Alessandra; Magnotto, John C.; Abreu, Ana Paula
• Is Part Of: Best practice & research. Volume 36:Issue 1(2022)
• Publication Date: 2022-01
• Subjects: puberty -- genetics -- GWAS -- early puberty -- delayed puberty; GWAS genome wide association studies -- GnRH gonadotropin-releasing hormone -- HPG hypothalamic-pituitary-gonadal -- LH luteinizing hormone -- FSH follicle-stimulating hormone -- CPP central precocious puberty -- SLDP self-limited delayed puberty -- CDGP constitutional delay of growth and puberty -- KS Kallmann syndrome -- HH hypogonadotropic hypogonadism; Endocrine glands -- Diseases -- Periodicals; Metabolism -- Disorders -- Periodicals; Endocrinology -- Periodicals; Metabolism -- Periodicals; 616.4
• DOI: 10.1016/j.beem.2022.101618
• Languages: English
• ISSNs: 1521-690X

Abstract

Abstract : 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.