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Mullerian agenesis

Mullerian agenesis refers to a condition in a female where the mullerian ducts fail to develop and a uterus will not be present. Primary amenorrhea is a leading symptom. more...

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Signs and symptoms

A woman with this condition is hormonally normal, that is she will enter puberty with development of secondary sexual characteristics including thelarche and adrenarche. Her chromosome constellation will be 46,XX. Ovulation usually occurs. Typically the vagina is shortened and intercourse will be difficult and painful. Medical examination supported by gynecologic ultrasonography demonstrates vaginal and uterine absence.

Prevalence

The estimated prevalence is 1:5000. A genetic cause is likely (see OMIM).

Treatment

It may be necessary to use vaginal dilators or surgery to develop a functioning vagina to allow for satisfactory sexual intercourse. Women with this condition can have children through IVF with embryo transfer to a gestational carrier.

Other

The condition is also called Mayer-Rokitansky-Küstner-Hauser (MRKH) Syndrome, named after August Franz Joseph Karl Mayer, Carl Freiherr von Rokitansky, Hermann Küster, and G.A.Hauser.

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ACOG opinion paper on vaginal agenesis - American College of Obstetricians and Gynecologists Committee on Adolescent Health Care - Brief Article
From American Family Physician, 9/1/02 by Brian Torrey

The Committee on Adolescent Health Care of the American College of Obstetricians and Gynecologists (ACOG) has issued an opinion paper on nonsurgical diagnosis and management of vaginal agenesis. ACOG Committee Opinion No. 274 appears in the July 2002 issue of Obstetrics and Gynecology.

According to the ACOG opinion paper, vaginal agenesis is an uncommon, but not rare, condition. It occurs once in every 4,000 to 10,000 females. The most common cause of vaginal agenesis is congenital absence of the uterus and vagina, which is also referred to as mullerian aplasia, mullerian agenesis, or Mayer-Rokitansky-Kuster-Hauser syndrome. The condition usually can be managed nonsurgically with the use of successive dilators if it is correctly diagnosed and the patient is sufficiently motivated.

Besides correct diagnosis, effective management also includes evaluation for associated congenital, renal, or other anomalies and careful psychologic preparation of the patient before any treatment or intervention. The ACOG committee recommends that nonsurgical creation of the neovagina should be the first-line approach. If surgery is preferred, a number of approaches are available and described in the Committee Opinion; the most common is the Abbe-McIndoe operation.

COPYRIGHT 2002 American Academy of Family Physicians
COPYRIGHT 2002 Gale Group

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