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August 28, 1996

Diversity of Reproductive Tract Abnormalities in Men With Cystic Fibrosis

Author Affiliations

The Hospital for Sick Children
Wellesley Hospital
Mt Sinai Hospital Toronto, Ontario

JAMA. 1996;276(8):607-608. doi:10.1001/jama.1996.03540080029022

To the Editor.  —The majority of adult men with cystic fibrosis (CF) are reportedly azoospermic due to congenital bilateral agenesis of the vas deferens (CBAVD), and this genital phenotype has been proposed as a diagnostic criterion for CF.1,2 We evaluated the reproductive tract of men with CF using the following procedures: genital examinations by a specialist blinded to the patients' phenotypes and genotypes; hormone analyses (prolactin, follicle-stimulating hormone, luteinizing hormone, and testosterone); semen analyses (twice); and testicular and transrectal sonography. Genotype data were available from a previous study. Twenty-three men consented, and 20 completed all of the investigations, including 14 patients who were pancreatic insufficient (mean age, 29 years) and 6 who were pancreatic sufficient (mean age, 34 years). Thirty-five percent were homozygous for △F508, and 4 of 6 patients who were pancreatic sufficient had at least 1 mild gene mutation. Secondary sexual characteristics, testicular size, and