Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction

Research output: Contribution to journalReview article

28 Citations (Scopus)

Abstract

Objective: Human gene mutations provide an opportunity to study the pathophysiology of the disease process as well as normal physiology. The purpose of the present report was to review known human gene mutations that affect gonadotropin secretion. Design: A retrospective analysis of studies of human gene mutations that affect hypothalamic, pituitary, and gonadal function was conducted. Result(s): Mutations have been identified for at least three genes that cause inherited hypogonadotropic hypogonadism. In addition, gene mutations for the β-subunits of FSH and LH have been characterized. Both activating and inactivating mutations have been identified for the gonadotropin receptor genes. Conclusion(s): The identification of human gene mutations has furthered our understanding of the normal processes of pubertal development and fertility.

Original languageEnglish (US)
Pages (from-to)201-218
Number of pages18
JournalFertility and sterility
Volume71
Issue number2
DOIs
StatePublished - Jan 1 1999

Fingerprint

Puberty
Gonadotropins
Reproduction
Mutation
Genes
Gonadotropin Receptors
Forensic Anthropology
Hypogonadism
Fertility
Retrospective Studies

Keywords

  • Adrenal hypoplasia congenita
  • Genetics
  • Gonadotropin
  • Gonadotropin deficiency
  • Gonadotropin receptor
  • Idiopathic hypogonadotropic hypogonadism
  • Kallmann syndrome
  • Precocious puberty
  • Premature ovarian failure

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

Cite this

Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction. / Layman, Lawrence C.

In: Fertility and sterility, Vol. 71, No. 2, 01.01.1999, p. 201-218.

Research output: Contribution to journalReview article

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