Male Infertility Diagnosis
Testicular mapping and genetic tests like cystic fibrosis test, Karyotyping and Y microdeletion analysis are important male infertility diagnosis tests for couples who are at risk of inherited genetic diseases. Dr. Bastuba will review the findings obtained from tests and exams and discuss them with the male patient. He will make a diagnosis and an assessment whether your infertility is due to a treatable cause or due to an unknown cause.
Testicular Mapping
Genetic Testing
Testicular Mapping
With this new non-surgical technique we detect sperm in the testicles of men who have poor sperm production (non-obstructive azoospermia). With ICSI, the requirements for sperm have been reduced to 1 live sperm per egg. Many men who have been diagnosed with non-obstructive azoospermia either due to hypospermatogenesis, maturation arrest or Sertoli-cell only syndrome (germinal cell aplasia) have been found to have small "pockets" of sperm production within the testicles. With testicular mapping sperm production has been found in up to 70% of men who have FSH (follicle stimulating hormone) levels greater than three times normal or who had no sperm production on a past biopsy.
Genetic Tests are the most rapidly expanding areas within the treatment of male infertility. Following the human genome project this explosive area of research has taken on new prominence and direction.
There are three genetic tests that are most commonly used in the infertile male. If any of these tests are positive, Dr. Bastuba recommends with a genetic counselor.
Karyotyping
Indication
Karyotyping looks at the big picture of genes. The chromosomes from a cell are literally laid out on a photograph plate and a picture is taken of them. This picture allows for visual confirmation that all the big pieces of genes are present. It looks for large changes, which can be present in up to 10% of males with very low or low sperm present.
How this might help you as a couple
The most common syndrome that could be found with karyotyping would be Klinefelter’s. The sperm is sometimes retrievable in patients with this genetic change. It is important that the couple be aware of this as a possibility before moving forward. Many couples choose not to undergo cariotyping since they feel that these types of changes would not influence their decision of having children. This information however, allows that choice to be made by the couple rather than not being discussed.
Y Microdeletion Analysis Testing
Indications
Y Microdeletion Analysis can be useful in patients with no sperm in their ejaculate since certain microdeletions make it very unlikely to find any sperm within the testicle. Y chromosomal microdeletions at the azoospermia factor regions (see in illustration AZF regions a,b and c) have been identified as one cause of unknown male infertility. With advanced infertility treatments such as intracytoplasmic sperm injection (ICSI), the increasing risk of male children genetically inherit Y microdeletion makes testing most important for the future parents.
How this might help you as a couple
For many couples Y microdeletion analysis reveals microscopic genetic changes (mutations) that are currently not treatable. However, many research teams are working on gene therapy. If a couple has been tested and found positive for some of these small genetic changes, then when specific gene therapy for those changes is developed then it is much easier to immediately come in for treatment.
Cystic Fibrosis Test (CFT)
Indications for CFT
The Cystic Fibrosis Test is recommended for couples with no or exceedingly low sperm counts. There is a form of CF that only affects the male seminar (sperm) tract. This entity known as congenital bilateral absence of the vas deferens (CBAVD) causes the male not to form portions of the sperm tubing. Those males are only affected in this part of their anatomy and suffer no other problems. They are easily treated by simply withdrawing sperm directly from the testicle or from the epididymis. Other patients however are more seriously affected and if the female counterpart has the same gene change as the male, a male child could be born with full-blown Cystic Fibrosis, which has significant ramifications for that child’s long-term health. Other changes such as a single kidney have also been reported.
How it might help you as a couple
There are well over 1000 different, small gene changes that have been reported in literature. Most commercially available cystic fibrosis tests test for approximately 30 of these changes and also should include testing for the 5 T-allele. For most ethnic groups this test for a high percentage of the possible gene changes. If the male test positive, the female partner should be tested because of the possibility of full-blown cystic fibrosis.
Male Fertility Specialists
6699 Alvarado Road, Suite 2207
San Diego, CA 92120
(619) 286-3520
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