Genetics of Male Infertility - Other Conditions
A few rare genetic conditions with which infertility is associated are
Kennedy’s disease
Kallman’s syndrome
Prader Willi syndrome
Myotonic dystrophy
Kartagenar’s syndrome
Kennedy’s disease:
Spinobulbar muscular atrophy or Kennedy’s disease is an X linked condition characterized by late onset (at about the age of 30), progressive neurone degeneration, muscular weakness, and
The molecular mechanism is the expansion (in excess of 38-40 repeats ) of the trinucleotide repeat sequence (CAG) located in exon 1 of the androgen receptor (AR) gene located on chromosome Xq11-12, which causes an abnormal polyglutamine stretch in the receptor protein. This causes dysfunction of the androgen receptor to the action of circulating androgens.
