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Genetics of pubertal timing.

Alessandra Mancini1, John C Magnotto1, Ana Paula Abreu1

  • 1Department of Medicine, Harvard Medical School, Division of Endocrinology Diabetes and Hypertension, Brigham and Women's Hospital, Boston, USA.

Best Practice & Research. Clinical Endocrinology & Metabolism
|February 20, 2022
PubMed
Summary
This summary is machine-generated.

Genetic factors significantly influence the timing of puberty, impacting sexual maturation. Understanding these genetic controls is crucial for addressing health issues related to pubertal timing.

Keywords:
GWASdelayed pubertyearly pubertygeneticspuberty

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Health

Background:

  • Puberty signifies the transition from childhood to sexual maturation, initiated by gonadotropin-releasing hormone (GnRH) secretion.
  • Pubertal timing is influenced by a complex interplay of genetic, nutritional, environmental, and socioeconomic factors.
  • Deviations in pubertal timing are linked to adverse health outcomes later in life.

Purpose of the Study:

  • To review recent discoveries in the genetic regulation of pubertal onset.
  • To explore potential mechanisms by which genes influence pubertal timing.
  • To enhance understanding of the neuroendocrine control of puberty.

Main Methods:

  • Review of large populational studies.
  • Analysis of patient cohort-based studies.
  • Synthesis of human genetic findings.

Main Results:

  • Human genetic studies indicate that 50-80% of variation in pubertal onset is genetically determined.
  • Numerous genes implicated in pubertal timing have been identified through extensive research.
  • These studies provide insights into the genetic underpinnings of pubertal development.

Conclusions:

  • Genetic factors play a predominant role in determining the timing of puberty.
  • Further research into implicated genes can elucidate mechanisms controlling neuroendocrine pathways.
  • Understanding genetic influences is key to addressing pubertal timing disturbances and associated health risks.