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MRKH Syndrome (Mayer-Rokitansky-Küster-Hauser Syndrome)

MRKH Syndrome (Mayer-Rokitansky-Küster-Hauser Syndrome)

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)
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