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Clinical diagnosis of CBAVD is easily made via palpation. Secondary sexual characteristics are normally developed. Testicular size is usually normal, and the epididymis may be engorged and distended on palpation depending on whether it is involved in the process of atresia or not. Typically, the vas deferens on either side is absent, although occasionally testicular ultrasound is required for confirmation of diagnosis. Renal ultrasound is indicated to rule out associated renal tract anomalies. In addition to azoospermia, the semen analysis exhibits normal or reduced volume, increased acidity and low concentration of fructose. Serum hormone levels show normal FSH, LH, testosterone and prolactin levels.

Molecular genetic confirmation is obtained via extended mutation analysis typically involving over 100 different cystic fibrosis mutations to identify not only the 32 most common mutations, but also to detect the less common mutations responsible for the CBAVD condition. This detailed mutation testing is particularly indicated if only one mutation was detected in either partner on routine cystic fibrosis screening in the presence of a history of recurrent respiratory or digestive disease, as could be in Case History 2, for example. Screening of the female partner of men with CBAVD is crucial to fully understand the future reproductive risks for the couples such as in Case History 1.

After accurate genetic diagnosis is made, appropriate genetic counseling is an integral part of the two couples’ management to explain the genetic test results and emphasize the reproductive risks and wider family implications.