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Optimal evaluation of male infertility

Male infertility represents 40% of the etiologies for couples presenting for an evaluation, and due to the high prevalence, it is important to understand the importance of early and optimal diagnosis of the condition. If pregnancy fails to occur within one year of regular unprotected intercourse or if there are risks factors in the men, then an initial screening of the male should be done which consists of a reproductive history and two properly performed semen analyses. 

If either the history or semen analyses are abnormal, then a full evaluation by a urologist or other specialist in male reproduction should follow. A thorough physical exam is very important to determine conditions such as varicocele, absence of the vas deferens, palpation of the testes and secondary sex characteristics.

The semen analyses should be performed after two to five days of abstinence by a qualified laboratory with a quality control program for the test.  The specimen can be collected at home or at the laboratory and kept at body or room temperature then transported within one hour of collection. 

The reference range for the semen analyses from the World Health Organization (WHO) include:  volume, pH > 7.2, concentration >15 million/ml, motility > 40%, morphology >4%.  At Fertility Centers of Illinois, our reference ranges are the same as WHO except for sperm morphology at 14% as evaluated by strict criteria.

Other tests which can be performed depending on the clinical situation include an endocrine evaluation when there is a very low sperm count

The three most common genetic factors known to be related to male infertility are:  cystic fibrosis (CF) gene mutations associated with congenital bilateral absence of the vas deferens (CBAVD), chromosomal abnormalities resulting impaired testicular function and Y- chromosome microdeletions associated with isolated spermatogenic impairment.

There is a strong correlation between CBAVD and mutations of the CF gene which is located on chromosome 7. It should be assumed that a man with CBAVD harbors an abnormality of the CF gene, and therefore, it is important to have his partner screened for CF prior to starting infertility treatment. Karyotypic abnormalities are present in about 1% of men with normal semen analysis while these abnormalities increase to 5% in oligospermic men and up to 10-15% in azoospermic men.

These chromosomal abnormalities include Klinefelter’s syndrome and less commonly, inversions and translocations.  Microdeletions of the portions of the Y chromosome may be found in 10-15% of men with azoospermia or severe oligospermia. These microdeletions are too small to be found with standard karyotype so PCR is needed to analyze the entire length of the Y chromosome.

Since male infertility comprises a large portion of all couples with difficulty achieving pregnancy, it is important to understand the possible etiologies so proper evaluation can be undertaken.  With referral to a urologist who specializes in male infertility, some conditions are amenable to medical or surgical treatment.  Very severe oligospermia can be treated with IVF with intracytoplasmic sperm injection with a high success rate. Even men with azoospermia, sperm retrieval at the testes or epididymis may be accomplished, and sperm can be then be injected into oocytes retrieved with IVF.

Medical contribution by Meike Uhler, M.D.

Dr. Uhler feels fortunate to play a role in this stage of her patients’ lives. Her research interests focus on the evaluation and treatment of infertility, as well as raising fertility awareness in the general population.

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