Human gene mutations causing infertility

Research output: Contribution to journalReview articlepeer-review

80 Scopus citations


The identification of gene mutations causing infertility in humans remains noticeably deficient at present. Although most males and females with infertility display normal pubertal development, nearly all of the gene mutations in humans have been characterised in people with deficient puberty and subsequent infertility. Gene mutations are arbitrarily categorised into four different compartments (I, hypothalamic; II, pituitary; III, gonadal; and IV, outflow tract). Diagnoses of infertility include hypogonadotrophic hypogonadism (compartments I and II), hypergonadotrophic hypogonadism (III), and obstructive disorders (compartment IV). Most gene mutations identified to date affect gonadal function, but it is also apparent that a large number of important genes in normal fertility have yet to be realised.

Original languageEnglish (US)
Pages (from-to)153-161
Number of pages9
JournalJournal of medical genetics
Issue number3
StatePublished - 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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