At present there are 120 thousand infertile couples in Hungary. In about 90% of the cases the currently used methods help establish the cause of infertility and treatment is also possible. Factors that can cause infertility are dysfunctional (for example hormonal problems), or organic. In the remaining 10% of the cases infertility is either unexplained or untreatable.
Definition of infertility: Infertility is the failure to conceive after a year of regular intercourse without contraception. Infertility is the result of male conditions in about half of the cases; and of female conditions in the other half.
A number of factors are needed for a woman to become pregnant and bear to term:
- Normal hormonal functions, which control ovulation and prepare the uterus for the development of the embryo. Hormonal disorder or deficiency can generally be treated with medication to restore the function.
- Normal ovarian function, which is a precondition for egg formation. The most common condition affecting the ovaries is polycystic ovary syndrome (PCOS). The ovaries are enlarged and full of small cysts. Generally there is no follicular development and infertility results. Follicle stimulating hormones (FSH) are an effective treatment for this problem. Research has also revealed that PCOS is closely related to carbohydrate metabolism disorder, thus additional treatment (metformin) may be necessary.
- Anatomically healthy genitals, so that the sperm can travel to the egg and the embryo can reach the ovarian lining unimpeded. A frequent problem is tubal obstruction due to inflammation. This can be diagnoseg by injecting a contrast medium from the vagina to the uterus and tracing it by radiography or ultrasonography (HSG, Hy-Co-Sy). If both fallopian tubes are obstructed without any widening, or ectasia, in vitro fertilization (IVF) is the most expedient method. If there is retention of inflammatory fluids in the fallopian tubes they should be removed before the IVF program is started. (This is done by laparoscopic microsurgery with endoscopy.)
- Non-receptive cervical mucus can make it hard for the sperm to penetrate. In such cases intrauterine insemination (IUI) is recommended. Sperms In this procedure after special preparation (washing and concentration) is injected directly in the uterine cavity through a thin catheter.
- Healthy uterine lining, so that the embryo can be implanted without complication. Polyps (benign growths) as well as scar tissue of adhesion resulting from previous inflammation can also be in the background of inability to conceive.
- Endometriosis is one of the most frequent conditions causing infertility. It can only be diagnosed laparoscopically. In this condition, endometrial tissue grows outside the uterus in the abdominal cavity for some unknown reason and responds to the menstrual cycle’s hormonal signals in the same way as the endometrium in the uterus. Endometriosis may require special treatment consisting of a combination of surgery and medication.
Unfortunately there is a general misconception that infertility is caused by female conditions. In many cases the male partner never gets examined, whereas a simple sperm test offers a whole host of information. Moreover, the sperm quality of men has significantly deteriorated over the past 50 years, a process to which researchers have yet to find an answer. It has been established that exposure to chemicals, smoking and stress deteriorate male fertility.
The complete examination of the man starts with a semen sample (or ejaculate). The volume, pH and liquefaction of the semen is examined macroscopically. This is followed by microscopic sperm count and analysis of sperm morphology and motility. Depending on the findings medication can restore fertility in the great majority of cases. It is recommended to involve an andologist specialist, as in some cases a minor surgical intervention (for instance if infertility is caused by varicose veins in the scrotum) is more effective than medication.
Genetic causes of infertility
When cell division starts DNA molecules are compacted into chromosomes. The number of chromosomes is always the same in every cell of every individual member of a species (with the exception of the ovum and the sperm): humans have 22 pair of corporeal (1-22) and two sex (XX or XY) chromosomes.
Sometimes faulty cells are generated in the course of cell division and the body’s repair mechanisms are unable to rectify them. Such faults can be detected by chromosome analysis. For this purpose cells are extracted from a blood sample and special staining makes the chromosomes visible and distinguishable. Chromosome disorders are not always symptomatic. Some people have what is known as balanced translocation, this means that two sections of the chromosomes are swapped. If this does not result in false genes this disorder will cause no symptoms. However, it may give rise to defective reproductive cells, which, once fertilized, may result in embryos with defective chromosomes. Studies pointed out that a couple where one parent had balanced translocation up to 70-80% had defective chromosomes, and this rate is not improved by IVF. A healthy child may still carry the parent’s translocation. This genetic abnormality may occur in both men and women.
Is there a solution for people who have this disorder?
Couples whose infertility can be traced back to chromosome defect may benefit from preimplantation genetic diagnosis (PGD). In this procedure one or two cells are removed from a six- or eight-cell embryo that is suitable for implantation. The cells are genetically tested in order to identify which of the embryos are free of genetic problems. Once this has been determined, the embryos are implanted. International literature shows that removal of one or two cells does not damage the embryo in this early stage of development.
Y chromosome microdeletion
The long arm of the Y chromosome plays an important role in spermatogenesis (sperm formation). It has been recently discovered that various genes of the the Y chromosome have some correlation to spermatogenesis (they include RBM and DAZ, DFFRY, DBY and other gene families). The absence, or deletion of these chromosome parts may impair and often entirely eliminate spermatogenesis.
As a result of modern IVF techniques (intracytoplasmic sperm injection, ICSI) fertilization can occur even if the ejaculate does not contain any sperm and sperm can only be isolated from the testicle by means of different methods. However, if reduced spermatogenesis has genetic causes (AZF), the couple should be aware that the Y chromosome of their male offspring resulting from the IFV procedure will carry the same microdeletion defect and will himself need IVF in years to come.