MRKH Syndrome is a rare congenital condition in which a female is born with an underdeveloped or absent uterus and vagina, despite having normal ovaries and external genitalia.
Key Features
Absence or underdevelopment of the uterus
Short or absent vaginal canal
Normal female chromosomes (46, XX)
Normal breast and body development
Primary amenorrhea (absence of menstrual periods)
Causes
Types of MRKH Syndrome
Type 1: Only reproductive organs are affected
Type 2 (MURCS Association): May include kidney, spine, or hearing abnormalities
Symptoms
No menstrual periods by teenage years
Difficulty with vaginal intercourse
Usually normal puberty and hormonal function
Diagnosis
Physical examination
Ultrasound or MRI imaging
Genetic testing (if required)
Treatment Options
Non-surgical vaginal dilation therapy
Vaginoplasty (creation of a new vagina)
Psychological counseling and support
Fertility Considerations
Natural pregnancy is not possible due to absence of uterus
Options include IVF with surrogacy (as ovaries are functional)