Congenital adrenal hyperplasia (CAH) is the most common genetic disorder of steroid production affecting male fertility. One in every 16,000 individuals has classic CAH, which makes it one of the most common autosomal recessive human genetic diseases. Due to a disruption in the steroid producing pathway, men with CAH have an overproduction of steroid hormones from the adrenal glands. This can in turn, decrease the signaling hormones from the pituitary gland telling the testicles to make testosterone and sperm. One-fourth to one-half of men with CAH will form testicular adrenal rest tumors. These are tumors which are benign and non-cancerous, are typically found in both testicles, destroy normal testicular tissue and block the outlet for sperm to get out of the testicles, causing further issues with infertility. Most men with CAH and these tumors in both testicles have a sperm count of zero. Treatment options for such men have historically been suboptimal, requiring multiple procedures.
Dr. Kavoussi lectured on his treatment algorithm for his patients in this situation, performing one surgery to remove the tumors and retrieve sperm in the same setting. He stated, “It was wonderful to be able to share our ideas and results with colleagues from all over the world at this international congress in Prague, Czech Republic. This approach allows for one procedure, gets rid of the tumors to minimize further tissue destruction, relieves pain from these tumors, and achieves the goal of retrieving sperm which is used with IVF/ICSI to help these men become fathers.”