Gonadal dysgenesis

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Classification according to ICD-10
E28 ovarian dysfunction
E29 testicular dysfunction
Q50 Congenital malformations of the ovaries, the uterine tubes and the ligaments. lata uteri
Q53 Nondescensus testis
Q55 Other congenital malformations of the male genital organs
Q56 Indeterminate gender and pseudo-hermaphroditism
Q96 Turner Syndrome
Q97 Other female phenotype gonosome abnormalities, not elsewhere classified
Q98 Other male phenotype gonosome abnormalities, not elsewhere classified
Q99 Other chromosomal abnormalities, not elsewhere classified
ICD-10 online (WHO version 2019)

Gonadal dysgenesis describes a genital malformation of the reproductive glands ( gonads ), i.e. the testicles or ovaries . Some authors also include the congenital absence of gonads (gonadal agenesis).

Gonadal dysgenesis is a histopathological finding. There are also mild dysgenesies and / or only affecting parts of the gonadal tissue.

Today, gonadal dysgenesis is usually only considered a diagnosis if there is no gonosomal aberration, which is B. Turner syndrome (45X) or Klinefelter syndrome (47XXY) is the case.

In older texts, the terms Turner syndrome and gonadal dysgenesis were used e.g. T. used synonymously, namely for chromatin-negative, phenotypically infantile-female persons, i.e. both for Turner syndrome (in today's sense) and for Swyer syndrome.

Occurrence

As part of some syndromes:

The Kallmann syndrome (syn .: olfactogenital syndrome, hypogonadotropic hypogonadism due to a lack of GnRH in the hypothalamus ) actually no longer belongs to gonadal dysgenesis, since the gonads are infantile, and regular maturation of the gonads including reproductive function is possible through gonadoliberin substitution.

literature

Individual evidence

  1. ^ Entry on gonadal dysgenesis in the Flexikon , a Wiki of the DocCheck company
  2. ^ Willibald Pschyrembel : Clinical Dictionary , 266th, updated edition, de Gruyter, Berlin 2014, ISBN 978-3-11-033997-0 , keyword gonadengygenesis
  3. Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .