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Genetic regulation in pubertal delay.

Sasha R Howard1

  • 1Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, UK.

Journal of Molecular Endocrinology
|August 9, 2019
PubMed
Summary
This summary is machine-generated.

Genetic factors significantly influence puberty timing. Mutations in key genes regulating the gonadotropin-releasing hormone (GnRH) system and disruptions in metabolic signaling can cause delayed or absent puberty.

Keywords:
EAP1constitutional delay in pubertydelayed pubertypubertypuberty genetics

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Area of Science:

  • Endocrinology
  • Human Genetics
  • Reproductive Biology

Background:

  • Delayed puberty is a common clinical presentation with diverse underlying causes.
  • Pubertal timing is a highly heritable trait, indicating a strong genetic influence.
  • Genetic factors are crucial in regulating the onset and progression of puberty.

Purpose of the Study:

  • To explore the genetic underpinnings of delayed puberty.
  • To elucidate the role of specific genes in the development and regulation of the hypothalamic-pituitary-gonadal (HPG) axis.
  • To understand how genetic defects and metabolic disturbances impact pubertal timing.

Main Methods:

  • Review of genetic studies identifying mutations in genes related to puberty.
  • Analysis of the genetic regulation of the gonadotropin-releasing hormone (GnRH) system.
  • Investigation of the interplay between energy metabolism, kisspeptin, and GnRH secretion.

Main Results:

  • Deficiencies in genes essential for fetal GnRH system development can lead to a spectrum of pubertal disorders, including absent puberty with anosmia.
  • Proper timing of puberty relies on a balance of inhibitory and excitatory signals acting upstream of GnRH secretion.
  • Disruptions in energy metabolism signaling to the kisspeptin-GnRH system can result in delayed puberty, often associated with altered body mass.

Conclusions:

  • Genetic defects are a significant cause of delayed or absent puberty.
  • The precise timing of puberty is regulated by complex genetic and neuroendocrine mechanisms.
  • Understanding these genetic and metabolic pathways is vital for diagnosing and managing pubertal disorders.