We continue our efforts to keep you up-to-date on advances in reproductive medicine and the availability of the newest technologies at FCI. This letter addresses the optimal evaluation of the infertile male.
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 Semenanalyses. If, either the history or semen analyses are abnormal, then a full evaluation by an 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 three 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. Then reference range for the semen analyses is the World Health Organization (WHO) criteria which include: volume 1.5-5.ml, pH > 7.2, concentration >20 million/ml, Motility50%, Morphology; 30%.
Other tests which can be performed, depending on the clinical situation, include an endocrine evaluation when there is a very low sperm count <10 million/ml, impaired sexual function or other clinical findings suggestive of an endocrinopathy. These tests should include FSH, LH, Testosterone and Prolactin. A marked elevation of FSH is indicative of testicular failure. A post-ejaculatory Semen Analysis should be performed in patients with low ejaculate volume or history of diabetes. Scrotal Ultrasound may be needed with an abnormal physical exam, and direct antisperm antibodies may be elevated in men with history of vasectomy reversal. Leukocytes in the semen analysis are difficult to differentiate from debris, round cells or immature sperm cells unless properly stained, but if present, they may be representative of a genital tract infection.
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 withAzoospermia; 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 an 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 then be injected into oocytes retrieved with IVF.
We hope this information will be helpful to your practice. We welcome any questions by you, your staff or your patients on this topic or any other subjects covered in our Information Letter series. Please call me directly at 630/ 305-7576 or feel free to email me.
The Male Infertility Best Practice Policy Committee of the American Urological Association and the Practice Committee of the American Society for Reproductive Medicine. Report on Optimal Evaluation of the Infertile Male, Fertility and Sterility; 2006; 86: S202-209.