Semen analysis test - Sri Lanka male female infertility treatment ...

• It appears that the extra sex chromosome is deleted early ingametogenesis as the embryos and children generally have normalkaryotypes.• However an increased rate of sex chromosomal aneuploidy has beennoted in some studies of sperm from XXY and XYY men.• Because of the increased frequency of autosomal abnormalities:• Reciprocal and Robertsonian translocations and inversions,• In patients with defective spermatogenesis and the risk of transmittingthese in the unbalanced form in offspring, karyotypes should be performedbefore treatment in all men with moderate to severe oligospermia (forexample average sperm concentrations less than 5 million per milliliter) ofprimary testicular origin.• Cystic fibrosis gene studies are important for evaluation of patients withcongenital absence of the vas and their partners.• If the woman has a CF gene mutation, preimplantation genetic diagnosisof their embryos can be offered.• Microdeletions in the long arm of the Y chromosome have been found in5-15% of men with severe primary spermatogenic disorders.• Sons of men with these microdeletions have been found to have the samemicrodeletions.• Androgen receptor defects have also been found in some men withunexplained primary spermatogenic disorders.• Mutations in the gene impairing androgen receptor activity produceandrogen insensitivity which has a variable phenotypic expression fromtesticular feminization to otherwise normal males with gynecomastia orhypospermatogenesis and oligospermia.• Increases in the number of CAG repeats in exon 1 over about 40 areassociated with Kennedy disease - progressive spinobulbar atrophy andmen with this condition may be infertile.• It is considered that the number of CAG repeats has an inverse effect onthe activity of the androgen receptor.