Mullerian agenesis
Mullerian agenesis Definition
Also known as MRKH syndrome, Mullerian agenesis refers to a condition in a female where the mullerian ducts fail to develop and a uterus will not be present. MRKH stands for Mayer-Rokitansky-K?ster-Hauser Syndrome, derived from the names Augsut Franz Joseph Karl Mayer, Carl Freiherr von Rokitansky, Herman K?ster, and G.A. Hauser.
Mullerian agenesis Diagnosis
Diagnosis of the disorder is often made with either radiologically or laparoscopically among patients whom hormonal and karyotypic investigations for primary amenorrhea are normal.
Mullerian agenesis Symptoms and Signs
A woman with Mullerian agenesis is hormonally normal, which means she will enter puberty with development of secondary sexual characteristics including thelarce and adrenarche. Ovulation usually occurs and chromosome constellation will be 46,XX. Women with the disease typically have shortened vagina and intercourse will be difficult and painful. A partial absence of the cervix, uterus, and vagina may be revealed in medical examinations, supported by gynecologic ultrasonography. Women with MRKH cannot conceive since there is no uterus. In vitro fertilization and surrogacy however can make it possible for them to have a genetic offspring. The disease is commonly discovered during a woman's puberty years, when the menstrual cycle does not start. It can also be found out earlier in some cases when women undergo surgeries for other conditions such as hernia. Less common symptoms of the disorder include kidney problems, hearing loss, and bone malformations.
Mullerian agenesis Treatment
Treatments to lessen pain during sexual intercourse are available but women with this disorder can get pregnant. Uterine transplant is being planned by UK and Swedish doctors that would allow women to carry their own child but no transplant has been successful yet. Some women who have ovaries can have genetic children though IVF with embryo transfer to a gestational carrier. To develop a functioning vagina to make way for satisfactory sexual intercourse may require vaginal dilators. In a McIndoe procedure, a skin graft is performed and applied to form an artificial vagina. Dilators are still required though after the procedure to prevent stenosis. A laparoscopic procedure meanwhile called Vecchieti has been shown to result in a vagina that is comparable to a normal vagina.