Wallach's Interpretation of Diagnostic Tests: Pathways to Arriving at a Clinical Diagnosis (256 page)

   For a couple experiencing infertility, the workup of the male begins with a history, physical examination, and standard semen analysis. Under certain circumstances, more specialized tests could help determine the cause. The presence of agglutination in the initial semen analysis suggests sperm autoimmunity, which should be confirmed by testing for antisperm autoantibodies. Azoospermia in the initial analysis, and the absence of sperm in concentrated postejaculation urine suggest a blockage, and assessing semen fructose is warranted.

   Chromosomal disorders affecting male fertility include Klinefelter syndrome (XXY and variants XXY/XY; XXXY), autosomal and X chromosome defects, and especially Y chromosome microdeletions and substitutions. Congenital disorders at the gene level include androgen receptor or postreceptor abnormalities, defective estrogen receptor or synthesis, inactivating receptor in the follicle-stimulating hormone (FSH) receptor gene, and myotonic dystrophy. Developmental disorders include cryptorchidism and varicoceles.

   Acquired diseases affecting male fertility include testicular cancer (with increasing frequency), debilitating illnesses (such as chronic renal insufficiency, cirrhosis, malnutrition, and sickle cell anemia), celiac disease, and a range of infections causing orchitis (mumps, echovirus, arbovirus, tuberculosis, leprosy, gonorrhea, and chlamydia).

   Other causes include certain drugs—alkylating agents (such as cyclophosphamide and chlorambucil), antiandrogens (such as flutamide, cyproterone, bicalutamide, spironolactone), ketoconazole, and cimetidine; ionizing radiation (doses as low as 0.015 Gy [15 rads] transiently suppressing spermatogenesis, doses above 6 Gy [600 rads] usually causing irreversible azoospermia and infertility); environmental toxins (such as lead, cadmium, mercury, and certain “endocrine disruptors” such as certain insecticides and fungicides); and smoking.

   Laboratory Findings

   A positive test for antisperm autoantibodies suggests sperm autoimmunity, which could be clinically significant if >50% of the cells are coated and when such sperm fail to penetrate preovulatory human cervical mucus or demonstrate impaired fertilizing capacity.

   Low or nondetectable semen fructose is associated with ejaculatory duct obstruction or with congenital absence of the vas deferens.

Suggested Readings

Adamopoulos DA, Lawrence DM, Vassilopoulos P, et al. Pituitary-testicular interrelationships in mumps orchitis and other viral infections.
Br Med J.
1978;1:1177–1180.

Bronson R, Cooper G, Rosenfeld D. Sperm antibodies: their role in infertility.
Fertil Steril
. 1984;42:171–183.

Carlson HE, Ippoliti AF, Swerdloff RS. Endocrine effects of acute and chronic cimetidine administration.
Dig Dis Sci.
1981;26:428–432.

Rowley MJ, Leach DR, Warner GA, et al. Effect of graded doses of ionizing radiation on the human testis.
Radiat Res.
1974;59:665–678.

Vine MF, Margolin BH, Morrison HI, et al. Cigarette smoking and sperm density: a meta-analysis.
Fertil Steril.
1994;61:35–43.

DISORDERS OF SPERM TRANSPORT

   Definition

   Disorders of sperm transport involve abnormalities at either of the critical sites along the male genital tract (the epididymis and the vas deferens) or ejaculatory dysfunction.

   Who Should Be Suspected?

   For a couple experiencing infertility, in the workup of the male, the findings of azoospermia in the initial standard semen analysis, normal-sized testes, and normal serum levels of testosterone, FSH, and luteinizing hormone (LH) warrant checking for retrograde ejaculation with a postejaculatory urine specimen. If sperm are not present in the urine specimen, then the patient has obstructive azoospermia or impaired spermatogenesis. Assessing semen fructose is the next step in distinguishing an obstruction at the epididymis from an obstruction or absence of the vas deferens.