Genital malformation
| Classification according to ICD-10 | |
|---|---|
| Q50- | Congenital malformations of the ovaries, the uterine tubes and the ligaments. lata uteri |
| Q51- | Congenital malformations of the uterus and the cervix uteri |
| Q52- | Other congenital malformations of the female genital organs |
| Q53- | Nondescensus testis |
| Q54- | Hypospadias |
| Q55- | Other congenital malformations of the male genital organs |
| Q56- | Indeterminate gender and pseudo-hermaphroditism |
| ICD-10 online (WHO version 2019) | |
A genital malformation is a malformation of the internal or external genital organs present at birth . Sometimes there can also be deviations from the norm without disease value ( norm variant ).
In both sexes
- Aphallia - absence of the penis or clitoris
- Bladder exstrophy
- Genital hypoplasia (underdevelopment of the sexual organs) ( e.g. in Alström syndrome , Börjeson-Forssman-Lehmann syndrome , CHARGE syndrome , Laurence-Moon-Biedl-Bardet syndrome , Verma-Naumoff syndrome or Saldino-Noonan syndrome )
- Gonadal dysgenesis
- Cloak exstrophy - bladder exstrophy with involvement of the rectum
- Pseudo-hermaphroditism
In the male sex
- Anorchia (in Goeminne syndrome , XY gonadal agenesis )
- Diphallia
- Epispadia (with Meckel-Gruber syndrome )
- Malformations of the scrotum such as cryptorchidism or anomalous position of the testicle
- Testicular hypoplasia (in Goeminne syndrome , Rothmund-Thomson syndrome , Klinefelter syndrome )
- Hypospadias
- Leydig cell hypoplasia
- Micropenis
- Macrophallia - prepubertal abnormally large penis due to increased testosterone levels
In the female gender
- Mayer-Rokitansky-Küster-Hauser syndrome (lack of Müller-Ganges )
- Malformations of the uterus
- Malformations of the vagina
- Hydrometrocolpos , hydrocolpos
- Hymeneal atresia
- Clitoral hypertrophy
- Labial hypoplasia
- Labial hypertrophy
- Vaginal aplasia and vaginal atresia
In the context of syndromes
Genital malformations can occur with some syndromes :
- Cornelia de Lange Syndrome
- Denys-Drash Syndrome
- Escobar syndrome
- Kampomele dysplasia
- Lenz syndrome
- Majewski syndrome
- Multiple pterygium syndrome
- Pallister Hall Syndrome
- Proud-Levine-Carpenter Syndrome
- Schinzel-Giedion syndrome
A distinction should be made between hormonal abnormalities, usually occurring later, such as:
Individual evidence
- ↑ 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 .
