Gonadal dysgenesis
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:
- Swyer syndrome (Syn .: pure gonadal dysgenesis without further symptoms: ICD-10 : Q99.1)
- Ullrich-Turner syndrome (most common cause of gonadal dysgenesis in women, ICD-10: Q96.9)
- Rössle syndrome (syn .: exogenous short stature, causes unclear)
- Pterygium syndrome (with malformations)
- Pasqualini syndrome ( androgen deficiency , decreased to normal spermogenesis and fertility )
- Perrault syndrome , gonadal dysgenesis with inner ear hearing loss
- Del Castillo syndrome ( aspermia due to the lack of the germinal epithelium in the testicular tubules )
- Gordan Overstreet Syndrome (male physique with female sexual organs)
- Testicular malformations ( testicular agenesis , testicular aplasia )
- Gonadal dysgenesis, 46, XX type
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
- U. Ulrich, F. Haverkamp, AS Wolf: Gonadal dysgenesis. In: The gynecologist. 31, p. 645, doi : 10.1007 / s001290050313
Individual evidence
- ^ Entry on gonadal dysgenesis in the Flexikon , a Wiki of the DocCheck company
- ^ Willibald Pschyrembel : Clinical Dictionary , 266th, updated edition, de Gruyter, Berlin 2014, ISBN 978-3-11-033997-0 , keyword gonadengygenesis
- ↑ 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 .