Delayed and Precocious Puberty: Genetic Underpinnings and Treatments

Endocrinol Metab Clin North Am. 2020 Dec;49(4):741-757. doi: 10.1016/j.ecl.2020.08.002.

Abstract

Delayed puberty may signify a common variation of normal development, or indicate the presence of a pathologic process. Constitutional delay of growth and puberty is a strongly familial type of developmental pattern and accounts for the vast majority of children who are "late bloomers." Individuals with sex chromosomal abnormalities frequently have hypergonadotropic hypogonadism. There are currently 4 known monogenic causes of central precocious puberty. The primary treatment goal in children with hypogonadism is to mimic normal pubertal progression, while the primary aims for the management of precocious puberty are preservation of height potential and prevention of further pubertal development.

Keywords: Central precocious puberty; Delayed puberty; Hypergonadotropic hypogonadism; Hypogonadotropic hypogonadism; Peripheral precocious puberty.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Adolescent
  • Child
  • Humans
  • Hypogonadism / drug therapy*
  • Hypogonadism / genetics*
  • Puberty, Delayed / drug therapy*
  • Puberty, Delayed / genetics*
  • Puberty, Precocious / drug therapy*
  • Puberty, Precocious / genetics*