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Luteinizing hormone resistance syndromes

C Tsigos1, C Latronico, G P Chrousos

  • 1Development Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

Annals of the New York Academy of Sciences
|June 17, 1997
PubMed
Summary

Luteinizing hormone resistance, caused by LH receptor gene mutations, leads to male undermasculinization and hypogonadism. In females, it can cause amenorrhea due to ovulation failure.

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Biology

Background:

  • Luteinizing hormone (LH) is crucial for reproductive functions, acting via the LH receptor (LH-R).
  • LH resistance, stemming from LH-R gene abnormalities, affects both males and females.
  • Understanding LH-R mutations is key to diagnosing and managing related disorders.

Purpose of the Study:

  • To investigate the genetic basis of LH resistance in two kindreds.
  • To characterize the functional consequences of identified LH-R mutations.
  • To correlate LH-R genotypes with clinical phenotypes in affected individuals.

Main Methods:

  • Genetic analysis including PCR amplification and DNA sequencing of the LH-R gene.
  • Functional studies of mutant LH-R in heterologous cells.

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  • Clinical evaluation of affected individuals, including hormonal assays and physical examinations.

    • Main Results:

    • Two distinct homozygous LH-R mutations were identified: Arg554-->Stop codon and Ser616-->Tyr616.
    • The Arg554-->Stop codon mutation resulted in a truncated LH-R, leading to severe Leydig cell hypoplasia and primary hypogonadism in XY individuals.
    • The Ser616-->Tyr616 mutation impaired LH binding and signal transduction, causing micropenis and hypogonadism in an XY patient.
    • Affected XX individuals with the Arg554-->Stop codon mutation exhibited amenorrhea and elevated LH levels, with normal pubertal development.

    Conclusions:

    • Homozygous inactivating LH-R mutations cause complete or mild testicular failure in males, manifesting as undermasculinization and hypogonadism.
    • In females, LH-R mutations can lead to ovulatory dysfunction and amenorrhea, while follicular development supports feminization.
    • These findings highlight the critical role of LH-R signaling in human sexual development and reproduction.