MRKH syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital (present at birth) disorder that affects the female reproductive system. Women with MRKH syndrome have normal external genitalia, but the uterus and vagina are underdeveloped or absent. The condition is also associated with abnormalities of other parts of the body.
Etiology[edit | edit source]
The exact cause of MRKH syndrome is unknown, but it appears to be a multifactorial condition, which means it likely results from a combination of genetic, environmental, and other factors. Some cases of MRKH syndrome are caused by changes in specific genes, including WNT4, HNF1B, and LHX1. However, most cases of MRKH syndrome do not have a known genetic cause.
Symptoms[edit | edit source]
The most common symptom of MRKH syndrome is primary amenorrhea, which is the absence of menstruation by age 16. Women with MRKH syndrome have normal development of secondary sexual characteristics including thelarche (breast development) and pubarche (pubic hair growth), but they do not have periods and are unable to conceive a child (infertile).
Diagnosis[edit | edit source]
Diagnosis of MRKH syndrome is usually made in adolescence when a girl fails to start having periods. A physical examination can reveal a short or absent vagina, and imaging tests such as ultrasound or MRI can show the absence of the uterus. Genetic testing can identify changes in the WNT4, HNF1B, and LHX1 genes, but these are found in only a small percentage of cases.
Treatment[edit | edit source]
There is no cure for MRKH syndrome, but treatments are available to help manage the condition. These may include dilation procedures or surgery to create a vagina, and counseling or support groups to help with the emotional aspects of the condition. Women with MRKH syndrome can have children through assisted reproductive techniques such as in vitro fertilization (IVF) and surrogacy.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
MRKH syndrome is a rare disease.
| MRKH syndrome Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
