Gonadal dysgenesis

Gonadal dysgenesis is a type of defect in the reproductive system. It appears in utero and causes that the gonads, i.e. the sex glands (ovaries in women, testes in men) do not develop. With this type of defect, the sex glands do not function and are mainly made of connective tissue. Gonadal dysgenesis occurs in the course of Turner syndrome and Klinefelter syndrome, as well as "pure" gonadal dysgenesis.

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1. What is gonadal dysgenesis?

Gonadal dysgenesis is the underdevelopment of the sex glands. However, this disadvantage is associated with other problems as well. The lack of sex hormones produced by the ovaries or testes means that people affected by this disorder do not have so-called secondary sexual characteristics (e.g. breasts in women, facial hair in men). Dysgenesis is also usually complete sterility due to the lack of functioning sex glands.

A distinction is made between gonadal dysgenesis and asymmetric dysgenesis. Then one of the gonads has a genetic defect, and the other:

  • it is aplastic (then we deal with mixed gonadal dysgenesis),
  • is affected by cancer,
  • she hasn't developed at all.

2. The causes of gonadal dysgenesis

There is a so-called "Pure" gonadal dysgenesis XX (pure gonadal dysgenesis), an autosomal disease that affects both female and male sex. It is not associated with any other diseases (see below), but is only associated with gonadal malformation. The chromosome organization is then normal, but local genetic changes occur. They cause underdevelopment of the gonads (and failure of the ovaries or testicles), and hence, a lack of sexual maturation and undeveloped most of the secondary sexual characteristics.

Klinefelter's syndrome is a chromosomal aberration, meaning that the patient has an extra X chromosome. This defect occurs in men. In addition to gonadal dysgenesis and infertility, people with Klinefelter syndrome also have symptoms such as:

  • gynecomastia,
  • azoospermia (lack of sperm in the sperm),
  • glazing of testicular tubules,
  • eunuchoidism (female body structure, small testicles, no facial hair and little hair),
  • high growth,
  • long limbs,
  • the onset of maturation is normal, but the process is not fully completed,
  • some lack voice mutation.

Turner syndrome (and its variants) is one of the causes of gonadal dysgenesis (most people with Turner syndrome also suffer from gonadal dysgenesis). It is a group of birth defects that only affect girls. These defects are caused by a chromosomal aberration, namely the absence or partial absence of one X chromosome. Characteristic features of people with Turner syndrome are:

  • uneducated (or poorly educated) female characteristics,
  • short stature,
  • delayed puberty,
  • amenorrhea (in some patients with partially preserved ovarian function, menstruation starts but after a few bleeds it stops),
  • gonadal dysgenesis,
  • sterility.

In some cases, you may encounter the characteristic flap neck symptom. It is not known what causes Turner syndrome. It is not related to the age of the mother.

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