Male Infertility: Lab Test

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

Hormone Diagnostics

Basic diagnostics

  • FSH (follicle-stimulating hormone) [obligatory if spermatogenesis (spermatogenesis) is suspected; as serum levels of FSH rise, concentrations of inhibin B fall]
  • LH (luteinizing hormone).
  • Testosterone (total testosterone)
  • 17-Beta-estradiol [obligatory in gynecomastia/enlargement of the male mammary gland].
  • Prolactin [obligatory in libido disorders and gynecomastia] (suspicion of prolactinoma → magnetic resonance imaging (MRI) of the sellar region).
  • TSH (thyroid-stimulating hormone) [for elevated serum prolactin levels]

Typical constellations of findings of hormonal parameters and ejaculate examination and their suspected clinical diagnoses:

FSH LH Total testosterone Spermiogram Suspected clinical diagnosis
Hypergonadotropic hypogonadism (primary hypogonadism). ↔ / ↓ Azoospermia v. a. Klinefelter syndrome
Normogonadotropic azoospermia Azoospermia Closure azoospermia
Hypergonadotropic azoospermia / OAT Azoospermia / OAT Primary testicular damage (testicular damage):

  • Maldescensus testis (undescended testis).
  • Testicular tumors
  • After gonadotoxic therapy
  • Idiopathic infertility
Hypogonadotropic hypogonadism (secondary hypogonadism). Azoospermia /OAT Pituitary / hypothalamic disorder
Normogonadotropic OAT OAT Patients with:

  • Infection/s
  • Systemic disease
  • Varicocele (“varicose vein hernia”)
  • Immunological disorder
  • Genetic disorder
  • Idiopathic infertility (infertility with unknown cause).

Legend

  • Azoospermia (= complete absence of spermatozoa and spermatozoa in the ejaculate).
  • OAT = oligo astheno-teratozoospermia (= decreased number, reduced motility and high percentage of malformed sperm).

Latent/manifest hypothyroidism (hypothyroidism).

  • TSH [obligatory in the presence of elevated serum prolactin levels]
  • If applicable, ft4
  • If applicable, TRH-TSH test (thyroid function test).

Immunological diagnostics

The following antibodies are determined:

  • Auto-antibodies to sperm antigens* – found in approximately 1 in 10 cases of infertility.Note! The absence of antibodies in serum does not exclude their presence in body secretions. Therefore, the cervical secretions and ejaculate should also always be examined for antibodies.

* The presence of sperm antigens means that the body produces antibodies against itself, that is, against its own sperm. These antibodies can lead to agglomeration (clumping) of spermatozoa and affect their motility (mobility) and fertility.

Bacteriologic and virologic diagnosis

As a screening measure or because of suspected prostatitis – cultures for germ detection of bacteria, myocoplasma, ureaplasma, and viruses (chlamydia, genital herpes, HPV) in the ejaculate (spermatozoa). Microbiology of ejaculate – conditions for antibiotic therapy.

  1. Positive ejaculate culture: > 103 germs/ml (relevant germ type).
  2. Leukospermia: > 106 leukocytes/ml.

A bacteriological ejaculate examination consists of: Determination of the germ type and germ count [CFU/ml] including a resistogram.

Human genetic diagnostics

The frequency of genetic or chromosomal alterations correlates negatively with spermatozoa concentration. In patients with azoospermia (ejaculate without spermatozoa) in up to 15% of cases. Chomosome testing (determination of the karyotype/appearance of a set of chromosomes) or genetic diagnosis should be performed in:

  • Total sperm concentrations: < 10 million.
  • Diagnosis of azoospermia factor (AZF) microdeletion at concentrations <5 million.
  • Azoospermia (complete absence of sperm/semen cells in the ejaculate).
  • Suspected Klinefelter syndrome – gonosomes (sex chromosomes) abnormality of the male sex leading to primary hypogonadism (gonadal hypofunction).
  • Structural abnormalities of the spermatic cord: CFTR (“cystic fibrosis transmembrane conductance regulator”)-mutation diagnosis (GR A).

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 the current two carrier screenings 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 for the disease. 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.