TY - JOUR
T1 - Human gene mutations causing infertility
AU - Layman, L. C.
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
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U2 - 10.1136/jmg.39.3.153
DO - 10.1136/jmg.39.3.153
M3 - Review article
C2 - 11897813
AN - SCOPUS:0036193520
SN - 0022-2593
VL - 39
SP - 153
EP - 161
JO - Journal of medical genetics
JF - Journal of medical genetics
IS - 3
ER -