Laboratory parameters of the 1st order – obligatory laboratory tests.
- Small blood count
- Fasting glucose (fasting blood glucose) – and glucose tolerance test (oGTT) if necessary.
- Total cholesterol, LDL cholesterol, HDL cholesterol
- Triglycerides
- HIV
Furthermore, laboratory tests to diagnose or exclude hormonal disorders:
- Follicle maturation disorders (egg maturation disorders) – Causes: see below.
- Corpus luteum insufficiency (corpus luteum weakness) – usually due to a follicle maturation disorder – causes: see below.
- Ovarian insufficiency – there are the following forms of ovarian insufficiency:
- Hyperprolactinemic ovarian insufficiency – at the level of the pituitary gland (pituitary gland) – increased serum level of prolactin (hyperprolactinemia), tumor (prolactinoma) of the pituitary gland (pituitary gland) or hypothalamus (a small area in the diencephalon), if necessary, detectable by X-ray.
- Hypothalamic ovarian insufficiency – disorder at the level of the hypothalamus (area in the diencephalon).
- Hyperandrogenemic ovarian insufficiency – at the level of the ovary (ovary) – increased serum levels of testosterone and possibly other androgenic hormones (hyperandrogenemia).
Consequences of ovarian insufficiency
- Mild to severe ovarian dysfunction (function of the ovaries).
- Corpus luteum insufficiency (weakness of the corpus luteum).
- Anovulation (failure to ovulate).
- Amenorrhea (absence of menstruation).
- Polycystic ovary syndrome (PCO syndrome).
- Dysfunction of: Thyroid, adrenal cortex – thereby causing disorders of follicle maturation, that is, the maturation of the egg – and cycle disorders.
The following hormones are determined:
Basic diagnostics
- LH (luteinizing hormone).
- FSH (follicle-stimulating hormone)
- TSH (thyroid stimulating hormone)
- 17-Beta estradiol (2nd cycle phase, 6th – 7th day postovulatory/post-ovulation).
- Prolactin
- Progesterone
- Testosterone
Note!In polycystic ovary syndrome (PCO syndrome), elevated serum LH levels are usually found with normal serum FSH levels – correspondingly, the LH/FSH quotient is often greater than 2. Follicle maturation disorder/corpus luteum insufficiency:
- 17-beta estradiol
- Progesterone
Caution!To determine the cause of follicular maturation disorder, in any case, hyperprolactinemia, hyperandrogenemia (eg, due to PCO syndrome) and thyroid dysfunction (eg, latent hypothyroidism, which is a clinically unremarkable form of hypothyroidism, often occurring together with galactorrhea (abnormal breast milk discharge), must be excluded. Hyperprolactinemia/prolactinoma
- Prolactin
Androgen-forming ovarian tumors
- Testosterone
Primary ovarian failure
- LH
- FSH
- 17-beta estradiol
Adrenogenital syndrome (AGS)
- 17-alpha-OH-progesterone
Androgen-forming adrenal tumors
- DHEA-S
- DHEA
- Testosterone
Cushing’s disease (Cushing’s syndrome)
- Cortisol
- Dexa test (dexamethasone test)
(Latent/manifest) hypothyroidism/hyperthyroidism.
- TSH
- FT4, if applicable
- TRH test, if necessary
Based on the hormone status, the doctor detects possible causes of hormonal infertility.
Immunological disorders
The following antibodies are determined:
- Sperm antibody
- Ovarian antibody
- TPO-Ak (TPO antibodies), if applicable – if autoimmune thyroiditis (AIT) is suspected; PCO patients have a threefold increased risk of AIT.
Laboratory parameters 2nd order – depending on the results of the history, physical examination, etc. – for differential diagnostic clarification:
- GnRH test
- TRH test
- Glucose
- HbA1C
- Oral glucose tolerance test (oGTT)
- Insulin
Preventive genetic diagnostics – carrier screening
Carrier screening is a genetic test used to determine if a person is a carrier for a specific autosomal recessive inherited disorder. This screening is most commonly used by couples who are considering pregnancy and want to determine beforehand whether the child would inherit genetic diseases.The American Congress of Obstetricians and Gynecologists (ACOG) recommends screening for cystic fibrosis only for couples of European descent, and the American College of Medical Genetics and Genomics (ACMG) recommends screening for spinal muscular atrophy in addition.In this population, the current two carrier screenings detect only 55.2 disorders per 100,000 children; detect only 55.2 disorders per 100,000 children; per the entire panel, it would be 159.2 disorders per 100,000 children. For Ashkenazi Jews, among whom genetic disorders are more prevalent, ACOG recommends screening couples of childbearing potential for Tay-Sachs syndrome and familial dysautonomia, in addition to screening. The ACMG suggests a panel of ten genetic tests (e.g., Niemann-Pick type A disease, Gaucher disease, and Fanconi anemia type C).In this population, 392.2 per 100,000 children develop severe recessive disease. Note: Being a carrier does not cause recessive disease. The double set of chromosomes usually protects against it.
