Introduction

In order to determine the underlying causes of the unfulfilled desire to have children, a number of examinations can be performed on the woman and the man, which are described below.

Since the cause of an unfulfilled desire to have children is equally likely to be found in both the woman and the man, both partners should always have themselves examined. Despite examinations, it can happen in 10-20% of cases that no cause for infertility can be found in either partner.

Examinations in the woman

1. cycle observation

Description: A woman cannot get pregnant without ovulation. Therefore, at the beginning of the examinations in a woman it is necessary to observe whether she is ovulating.

Procedure: A woman can monitor her cycle herself by taking her basal body temperature regularly  and observing the temperature curve.

Ovulation tests from the pharmacy, which measure the increase of the so-called luteinizing hormone (LH) in the urine, are another method to determine the time of ovulation.

Results: The temperature curve can be used to determine whether ovulation is occurring.

Using ovulation tests from the pharmacy, the increase in LH can be measured about 24h before ovulation.

2. cervical mucus analysis / post-coital test (PCT)

Description: The post-coital test tests the sperm permeability of the cervical mucus (mucus that normally closes the cervix in women). 

The post-coital test is particularly useful if a spermiogram of the man is already available, with which the results of the post-coital test can be compared.

Procedure: The test is performed by a gynecologist about 6-12 hours after unprotected sexual intercourse in the period shortly before ovulation. During this time, optimal conditions for cervical mucus permeability should normally exist.

In the practice or hospital, secretion is taken from the cervical canal for this purpose, which should be a mixture of cervical mucus and semen. This secretion is then examined for the quality of the sperm it contains.

Results: If the test was performed in the correct period and if no or few sperm are seen there can be different reasons for this:

• There was no ovulation and therefore no increase in estrogen with the associated increase in sperm permeability of the cervical mucus
• The spermatozoa are inactive and there may have been an incompatibility or defense reaction against the spermatozoa
• There were no sperm in the ejaculate – in this case, the sperm production or quality of the man’s ejaculate should be determined via a spermiogram

3. hormone examination

Description: During the menstrual cycle and especially during pregnancy, a large number of different hormones are active in a woman’s body, interacting in a complex way. If there is an imbalance of hormones, it may be difficult for a successful pregnancy to occur.

An irregular cycle or intermittent bleeding may already be a sign of hormone imbalances.

Procedure: Hormone testing is based on a blood sample. Since the female hormone level is strongly dependent on the cycle, the blood sample should be taken at the beginning of the cycle, for example between the 2nd and 5th day of the cycle; some hormone tests should also be taken in the second half of the cycle (e.g. progesterone).

Results: From the hormone tests, deviations from the normal range can be determined by comparing the test values with reference values, which – depending on the hormone – can impede a successful pregnancy in different ways.

Commonly measured hormone levels are:

• Estradiol – female hormone and important for egg maturation
• Thyroid hormones triiodothyronine (T3) and thyroxine (T4) – hypothyroidism or hyperthyroidism may prevent ovulation
• Luteinizing hormone (LH) – is involved in triggering ovulation.
• Follicle Stimulating Hormone (FSH) – provides clues to ovarian function.
• Anti-Müllerian hormone (AMH) – helps to estimate how large the woman’s oocyte reserves still are
• Prolactin levels – the so-called “breastfeeding hormone” can lead to a lack of ovulation (as is sometimes the case in women during breastfeeding)
• Testosterone and its precursors (DHEA-S, androstenedione) – if levels are too high, oocyte production suffers
• Progesterone (measured in the second half of the cycle) – indicates whether egg maturation was complete and ovulation has occurred.

4. examinations of the internal genital organs

Here, there are a number of examinations that are considered by gynecologists. Some of these can be performed on an outpatient basis without anesthesia, while others are invasive examination methods that involve surgery under general anesthesia.

4a. Ultrasound examination

Description: The so-called hysterosalpingo-contrast sonography (HSKS) can be used to examine the structures and patency of the uterus and fallopian tubes.  

Procedure: The examination usually takes place between the 7th and 11th day of the cycle. The woman is administered a contrast agent into the uterine cavity, which is a foam of gel and purified water. The foam causes a slight expansion of the fallopian tube walls, through which they can be examined via a vaginal ultrasound probe. This allows the foam to drain through the fallopian tube and thus its patency to be observed.

Results: This examination can be used to determine the patency of the fallopian tubes, which is a relatively common factor in infertility (30% of cases in which the cause of infertility is the woman).

4b. Abdominal endoscopy / laparoscopy

Description: This is an operation in which a woman’s internal genital organs are examined using special diagnostic instruments.

Procedure: A laparoscopy is performed under general anesthesia. A laparoscope (tube-shaped instrument with a camera) is inserted into the woman’s abdomen through a 0.5 cm incision. The appearance and location of the internal organs can be assessed via a screen. Usually, the abdominal cavity is also filled with carbon dioxide to allow more space and better visibility during the examination.

During a laparoscopy, tissue samples can also be taken via additional punctures in the abdominal wall and the patency of the fallopian tubes can be tested with a dye (chromopertubation). During a laparoscopy, special instruments can be used to remove small changes in the uterus (e.g. adhesions, fibroids, cysts, endometriosis lesions).

Results: Abdominal endoscopy is a good way to identify changes in the ovaries and uterus that may be contributing to an unfulfilled desire to have children.

4c. Uteroscopy / Hysteroscopy

Description: Uteroscopy is a specific examination of the uterus using an optical diagnostic instrument.

Procedure: For this purpose, a thin tube with a camera (hysteroscope) is inserted through the vagina into the woman’s uterus. With the help of carbon dioxide or fluid, the uterus is unfolded so that the uterine cavity and the accesses via the fallopian tubes can be examined.

Results: Uteroscopy can detect malformations, adhesions, fibroids and mucosal changes in the uterus.

Male examinations

1. spermiogram

Description: A spermiogram is also called a semen analysis. In the case of an unfulfilled desire to have children, this is the first and most important examination performed on a man. This involves examining the man’s ejaculate and, in particular, the sperm contained in the ejaculate for characteristics that could stand in the way of the successful fertilization of an egg.

Procedure: A spermiogram can usually be performed by a specialist in urology or by a reproductive physician; in some cases, the examination is performed directly in special laboratories.

Before the examination, the man must have been abstinent for three days. On the day of the  examination, the semen sample is obtained by the patient via masturbation, and analysis in the laboratory should then take place within 30-60 minutes. 

In order to make a reliable diagnosis, at least 2 ejaculate examinations should be performed within 6-12 weeks, since the sperm life cycle is approximately 10 weeks and short-term factors (e.g. stress) can have a negative impact on sperm quality.

Results: The following core semen parameters are typically evaluated and compared to reference values.

• Quantity of sperm
  • Sperm concentration
  • Sperm total number
• Sperm motility: Proportion of progressively motile sperm
• Morphology of spermatozoa: Proportion of sperm with normal shape

In addition, a number of other parameters are measured (e.g. leukocytes in the sperm as foreign elements, pH of the sperm, liquefaction).

From the deviations of certain parameters from the reference values, statements can be made about possible causes of an unfulfilled desire to have a child.

2. physical examination

Description: A physical assessment of hair, physique, as well as a palpation of the sexual organs is performed to obtain indications of other possible causes for an unfulfilled desire to have a child.

Procedure: The physical examination is usually performed by a urologist or andrologist and requires no special preparation.

Results: Physical abnormalities may indicate different physiological causes of infertility, for example, a physical examination may provide conclusions about a possible testosterone deficiency in men.

3. hormone examination

Description: Sperm production in the testis depends on the formation and secretion of certain hormones. A test of the hormones in the man’s blood can be used to check whether there is a hormonal disorder affecting sperm production in the testicles.

Procedure: Hormone testing is based on a blood sample. 

Results: Hormone testing typically measures the following values:

• Luteinizing hormone (LH)
• Follicle stimulating hormone (FSH)
• Testosterone

If the hormones LH and FSH or only FSH are elevated, this may indicate damage to the testicular tissue.

4. ultrasound examination of the testicle

Description: An ultrasound examination is performed to determine if a testicular tumor or varicose vein in the testicular area (varicocele) is present and possibly affecting a man’s inability to conceive.

Procedure: The ultrasound examination of the testicle is usually performed by a urologist or an andrologist and does not require any special preparation.

Results: If there is damage to the testis, it may be the cause of infertility.

5. testicular biopsy

Description: If very few sperm cells are detected in the spermiogram, a tissue sample of the testicle (testicular biopsy) can be used to determine whether the testicles are basically producing sperm.  

Procedure: During a testicular biopsy, an incision about one centimeter long is made on the scrotum under local anesthesia to remove a small tissue sample. The incision is then sutured with absorbable (i.e., self-dissolving) sutures.

Results: If the testes basically produce sperm, but they can only be detected to a small degree in the ejaculate, there may be damage to the vas deferens. In such a case, sperm can be collected directly from the testicle via a tissue sample – this procedure is called testicular sperm extraction (TESE). In some cases, sperm can also be collected from the fluid of the epididymis – this procedure is called microsurgical epididymal sperm aspiration (MESA). These two procedures can then be used to fertilize an egg from the partner by intracytoplasmic sperm injection (ICSI).

6. genetic examination

Description: In case of low sperm count, genetic causes may also be responsible for the unfulfilled desire to have children. For this, genetic analysis is performed for different genetic disorders that can cause problems with male fertility.

Procedure: Genetic testing usually requires a blood sample, which is then tested in the laboratory.

Results: There are a variety of genetic causes responsible for reduced/absent male fertility – these can often be identified by genetic testing, e.g.

• Klinefelter syndrome (XXY syndrome) – affecting 200 out of 100,000 men
• AZF deletions on the Y chromosome – in infertile men, deletions in a specific region of the Y chromosome called azoospermia factor (AZF) occur in less than 2% of cases 
• Cystic Fibrosis (Cystic Fibrosis) – Genes for cystic fibrosis can cause the vas deferens not to be created. About 4% of people have a gene defect that is causative for cystic fibrosis, but the symptoms of cystic fibrosis only occur if the gene defect is present on both genes (i.e. inherited from both parents) – this is the case in about one out of 2,700 newborns.

Last update: 09 November 2022

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