Rokitansky-Küster-Hauser syndrome

GPTKB entity

Statements (32)
Predicate Object
gptkbp:instanceOf genetic disorder
syndrome
gptkbp:affects female reproductive system
gptkbp:alsoKnownAs MRKH syndrome
Müllerian agenesis
gptkbp:associatedWith normal ovarian function
normal secondary sexual characteristics
gptkbp:category rare disease
gynecological disorder
gptkbp:cause primary amenorrhea
gptkbp:characterizedBy absence of uterus
underdeveloped or absent vagina
gptkbp:diagnosedBy MRI
pelvic ultrasound
gptkbp:firstDescribed gptkb:Carl_von_Rokitansky
Georg Hauser
Hermann Küster
gptkbp:geneticStudies possible
https://www.w3.org/2000/01/rdf-schema#label Rokitansky-Küster-Hauser syndrome
gptkbp:ICD-10_code Q51.0
gptkbp:namedAfter gptkb:Carl_von_Rokitansky
Georg Hauser
Hermann Küster
gptkbp:OMIM 277000
gptkbp:onset puberty
gptkbp:prevalence 1 in 4,500 female births
gptkbp:symptom infertility
absent menstruation
gptkbp:treatment surgical creation of neovagina
vaginal dilation
gptkbp:bfsParent gptkb:Carl_Rokitansky
gptkbp:bfsLayer 7