Male factor accounts for 40% of infertility cases. Common causes include varicocele, testicular injury, surgery, or medical illness. Recent studies have also shown that in some cases of severe male infertility, there may be a significant genetic component, which may be passed on to any male offspring. The precise cause of male factor infertility remains unexplained in more than 80% of cases. The following tests are important parts of the male evaluation.
The semen analysis is a simple way of documenting the presence of adequate numbers of healthy motile sperm. Because of its simplicity, the semen analysis is usually one of the first tests ordered. When the result of a previous analysis is abnormal we will recommend a repeat analysis at our center. If the Semen analysis is persistently abnormal, the male partner may be referred to a reproductive Urologist for a consultation and evaluation. The male exam usually includes a general physical exam and a detailed examination of the reproductive organs. Additional testing including ultrasound evaluation of the prostate or scrotum may be done as part of the evaluation.
In selected cases there may be an abnormal production of particles in the blood or semen, called antibodies. When present, antibodies may attack and destroy otherwise normal sperm or interfere with their ability to fertilize an oocyte.
Prior to beginning treatment we require that all males partners undergo serum testing for HIV, Hepatitis B, Hepatitis C, and Syphilis. Because these organisms may be transmitted through the semen, most states require this testing prior to using the sperm for insemination or before cryopreservation.
A karyotype is usually recommended in cases of severe sperm abnormalities or a history of recurrent pregnancy losses. An abnormal karyotype may also be seen with abnormalities which may prevent fertilization and pregnancy. In such cases treatment options include IVF with Preimplantation Genetic Diagnosis or the use of donor sperm.
Y Chromosome Deletion Testing
When the sperm concentration or motility falls below a threshold value, there is an increased risk of structural abnormalities of the Y chromosome. The Y chromosome controls the production and maturation of the sperm in the testicles. Some males with Y chromosome abnormalities are able to father children using advanced reproductive technologies such as IVF with intracytoplasmic sperm injection (ICSI). However, the chromosomal abnormalities may be passed on to any male offspring.
Sperm Chromatin Structure Assay (SCSA)
This is a relatively new diagnostic test which may be helpful in cases of recurrent pregnancy loss and failed fertilization caused by male factor infertility. The SCSA is used to determine the degree of DNA fragmentation in the sperm sample. Studies have shown that significant abnormalities can predict a reduced likelihood of natural conception. In such cases, advanced procedures like IVF with ICSI can be used to improve the chances of conception. However, even with application of ART, the pregnancy rate is significantly reduced, and there is an approximate doubling of the rate of miscarriage. The SCSA is commonly ordered as part of the evaluation for recurrent pregnancy loss and unexplained repeated failed IVF cycles.
Cystic Fibrosis Genetic Screening
Cystic fibrosis is commonly associated with congenital absence of the vas deferens (CBAVD). Men with CBAVD usually present with complete absence of sperm in the ejaculate.