title: Human gene mutations causing infertility.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, The Institute of Molecular Medicine and Genetics, The Medical College of Georgia, Augusta, GA 30912-3360, USA. Llayman@mail.mcg.edu
authors.forename: L C
authors.initials: LC
authors.lastname: Layman
mesh_terms: D002869:Chromosome Aberrations; D005796:Genes; D006066:Gonads / Q000378:metabolism*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D007031:Hypothalamus / Q000378:metabolism*; D007246:Infertility / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010902:Pituitary Gland / Q000378:metabolism*; D011627:Puberty / Q000235:genetics / Q000378:metabolism / Q000502:physiology