Infertility in male patients with cystic fibrosis.

TLDR

Male cystic fibrosis patients often exhibit azoospermic, low‑volume semen with normal external genitalia and mild pulmonary disease, despite normal growth and nutrition. Testicular biopsies revealed active spermatogenesis yet 50 % of sperm had malformed heads, with evidence of binucleate spermatocytes and abnormal meiosis suggesting a genetic defect.

Abstract

Repeated semen analyses done on eight mature male patients with cystic fibrosis have consistently shown azoospermic semen of low volume, low or normal viscosity, increased turbidity, yielding a positive color reaction for fructose. All patients are well developed, well nourished and of normal weight and height although seven of the eight have pancreatic insufficiency. The external genitalia and prostate glands of all patients have been judged normal by a urologist. The eight patients have had minimal respiratory symptoms and mild pulmonary disease. All are either finishing college or, having finished, are employed full time. Histologic examination of testicular tissue obtained at biopsy from one subject and at autopsy from nine additional cases showed active spermatogenesis though 50 percent of the spermatozoa had malformed heads. A possible genetic abnormality was suggested by the presence of many binucleate spermatocytes, spermatocytes containing cytoplasmic inclusions resembling polar bodies and many sticky and incomplete meiosis. Other factors which may be responsible for or contribute to infertility in the male with cystic fibrosis are the low serum levels of vitamins A and E or some interference with the normal transport of the sperm.