The American College of

Obstetricians and Gynecologists

WOMEN’S HEALTH CARE PHYSICIANS

COMMITTEE OPINION
.UMBERs-AY Replaces No. 355, December 2006)

Committee on Adolescent Health Care

This document reflects emerging clinical and scientific advances as of the date issued and is subject to change. The information should
not be construed as dictating an exclusive course of treatment or procedure to be followed.

Müllerian Agenesis: Diagnosis, Management, and

Treatment
ABSTRACT: Müllerian agenesis occurs in 1 out of every 4,000–10,000 females. The most common pre-
sentation of müllerian agenesis is congenital absence of the vagina, uterus, or both, which also is referred to as
müllerian aplasia, Mayer–Rokitansky–Küster–Hauser syndrome, or vaginal agenesis. Satisfactory vaginal creation
usually can be managed nonsurgically with successive vaginal dilation; however, there are a variety of surgical
options for creation of a neovagina. Regardless of the treatment option selected, patients should be thoroughly
counseled and prepared psychologically before the initiation of any treatment. Evaluation for associated congenital
renal anomalies or other anomalies is also important. Although exact gynecologic screening recommendations
are evolving, all women with a neovagina should undergo routine gynecologic care; however, vaginal cytologic
screening is not indicated.

Müllerian agenesis also is referred to as müllerian aplasia,
Mayer–Rokitansky–Küster–Hauser syndrome, or vagi-
nal agenesis. Given an incidence of 1 per 4,000–10,000
females, most general gynecologists will only encounter
müllerian agenesis once or twice during their careers
(1). Müllerian agenesis is caused by embryologic growth
failure of the müllerian duct, with resultant agenesis or
underdevelopment of the vagina, uterus, or both. The
vaginal canal is absent or markedly shortened. A single
midline uterine remnant may be present or uterine horns
(with or without an endometrial cavity) can exist. The
ovaries, given their separate embryologic source, are nor-
mal in structure and function.
Differential Diagnosis
Patients with müllerian agenesis typically present with
primary amenorrhea in adolescence with normal growth
and development. After gonadal dysgenesis, müllerian
agenesis is the second most common cause of primary
amenorrhea (2). On physical examination, patients with
müllerian agenesis have normal height, secondary sex-
ual characteristics, body hair, and external genitalia.
Furthermore, a vagina is either absent or present as a
short blind-ended structure without a cervix at the vagi-
nal apex. Patients with müllerian agenesis have a normal
46,XX karyotype and a normal hormonal profile.
The differential diagnosis of müllerian agenesis
includes congenital absence of the vagina (with or with-
out uterine structures), a low transverse vaginal septum,
an imperforate hymen, as well as 46,XY disorders of
sex development, including androgen insensitivity and
17α-hydroxylase deficiency.
In contrast to most patients with müllerian aplasia,
the patient with an imperforate hymen will not have the
typical fringe of hymenal tissue. The patient with a low
transverse vaginal septum will have a normal hymen with
more proximal obstruction of the vaginal canal. In addi-
tion to presenting with primary amenorrhea, the latter
two conditions occur with symptoms of cyclic abdominal
or pelvic pain and a pelvic mass due to the obstructed
outflow tract and associated hematocolpos. Pelvic imag-
ing may be helpful to distinguish this disorder.
In cases of androgen insensitivity, the gonads are tes-
tes, which produce normal androgens. The lack of func-
tional androgen tissue receptors results in sparse or no
pubic and axillary hair. Patients with androgen insensitiv-
ity typically have normal breast development because of
the peripheral conversion of the circulating androgens to
estrogens. They may have a small lower vagina or a nor-
mal vaginal length; however, no uterus or cervix is present
because of the in utero production of müllerian inhibiting
substance by the testes. In pubertal females, the diagnosis

1134 VOL. 121, NO. 5, MAY 2013 OBSTETRICS & GYNECOLOGY

between androgen insensitivity and müllerian agenesis
can be made by assessing serum testosterone levels, fol-
lowed by karyotype analysis, if a level in the pubertal male
range is indicated in the results. Determining karyotype is
helpful in prepubertal children who do not yet have post-
pubertal sex steroid production.
In cases of 17α-hydroxylase deficiency, individuals
will have phenotypically normal female external genita-
lia, a blind short vaginal pouch, no uterus or fallopian
tubes, and dysgenetic intra-abdominal testes. Affected
males usually are raised as females, and the underlying
disorder is recognized when the patient is evaluated for
lack of pubertal development (3, 4). Because of the risk of
neoplasm, it is important that gonadectomy be performed
in patients with 46,XY disorders of sex development. The
individual risk of neoplasm is estimated based on the
molecular diagnosis and age (5).
Evaluation of the Patient With
Müllerian Agenesis
Conventional transabdominal, translabial, or transrec-
tal ultrasonography; three-dimensional ultrasonography;
and magnetic resonance imaging can be used to evaluate
the müllerian structures and are helpful in definitively
characterizing anatomy. Most patients with müllerian
agenesis have small rudimentary müllerian bulbs without
any endometrial activity. In 2–7% of patients with mülle-
rian agenesis, active endometrium is found in these uter-
ine structures (1). These patients will present with cyclic
or chronic abdominal pain. Magnetic resonance imaging
has been suggested to assess the reproductive anatomy,
although it rarely is needed in the initial evaluation unless
ultrasound evaluation for the presence of functional
endometrium in a müllerian structure is equivocal (6).
Although laparoscopy is not necessary to diagnose mülle-
rian agenesis, it may be useful in the treatment of patients
with functional rudimentary uterine horns (7). When
obstructed hemi-uteri are identified (uterine horns with
the presence of active endometrium without an associ-
ated cervix and upper vagina), then laparoscopic removal
of the unilateral or bilateral obstructed uterine structures
should be performed (8, 9). Endometriosis can develop
from retrograde menstruation from the obstructed uter-
ine horn, which presents as dysmenorrhea and pelvic
pain. In most cases, surgical excision of the uterine horn
results in resolution of the endometriosis (10).
Evaluation for associated congenital, renal, or other
anomalies is essential because up to 53% of patients with
müllerian agenesis have concomitant congenital malfor-
mations, especially of the abdominal wall, urinary tract,
and skeleton (11). Ultrasonography can be used to screen
for the more common findings of renal agenesis or a
pelvic kidney. Scoliosis is the most common skeletal
abnormality associated with müllerian agenesis (11). It
also should be noted that there is an increased, but small,
rate of hearing impairment in patients with müllerian
agenesis (11). A variety of uterine anomalies, including
VOL. 121, NO. 5, MAY 2013
müllerian agenesis, can be seen in association with other
anomalies and syndromes, such as VATER/VACTERL
and anorectal malformations (12).
Management of Patients With
Müllerian Agenesis
Management of patients with müllerian agenesis includes
psychosocial counseling to address the functional and
emotional effects of genital anomalies as well as cor-
rection of the anatomical defect. After the diagnosis of
müllerian agenesis, the adolescent should be offered
counseling to emphasize that healthy sexual relation-
ships are possible. Future fertility options should be
addressed with adolescents and their parents or guard-
ians. Discussion of assisted reproductive techniques and
use of a gestational carrier (surrogate) is appropriate.
Female offspring of women conceived by assisted repro-
ductive technology typically have normal reproductive
tracts; although familial aggregates of müllerian agen-
esis have been documented, the mode of inheritance is
unclear (13, 14). This information allows adolescents and
young women to understand their reproductive potential
for becoming a biologic parent and may help them deal
with the diagnosis and its implications. The best predic-
tor of good emotional outcome after diagnosis and vagi-
nal creation is a good relationship between the patient
and her parent(s) or guardian(s) and the ability to share
feelings with family and friends (8). Contact with a sup-
port group of young women with the same diagnosis may
be helpful (see Resources) (7). Referral to a mental health
professional for ongoing support is worthwhile for some
patients. Patients should be given a brief, written medi-
cal summary of their condition, including a summary of
potential concomitant malformations. This information
may be useful if the patient requires urgent medical care
or emergency surgery from a health care provider unfa-
miliar with müllerian agenesis.
Nonsurgical Creation of a Neovagina
Timing for nonsurgical or surgical creation of a neovagina
is elective; however, it is best planned when the patient is
emotionally mature and expresses the desire for correc-
tion. Nonsurgical creation of the vagina is the appropriate
first-line approach in most patients.
Successful self-dilation requires patients to manu-
ally place successive dilators on the vaginal dimple for
30 minutes to 2 hours per day. Alternatively, a bicycle
seat stool can provide perineal pressure while allowing
the patient to participate in other activities (15). Many
young women find that sitting on the bicycle seat stool is
too uncomfortable or awkward, thus they may have bet-
ter success using dilators while reclining. Mature, highly
motivated patients who wish to avoid surgery and are
aware that it will take several months to achieve their goal
are likely to be successful with this technique (15, 16).
In a recently reported series of patients with müllerian
agenesis, 90–95% of the patients were able to achieve
Committee Opinion Müllerian Agenesis 1135
anatomic and functional success by vaginal dilation (17,
18). Health care providers often use peer mentors (other
patients with vaginal agenesis who have successfully
dilated), as support to the young woman attempting
dilation. Sexually experienced patients may present with
natural dilation of the vaginal dimple and occasionally
require no additional dilation therapy. However, patients
who successfully use dilation therapy may require con-
tinuation of dilation on an intermittent basis if they are
not regularly engaging in vaginal intercourse.
Surgical Creation of a Neovagina
Surgery is an option for patients who are unsuccessful
with dilators or for patients who prefer surgery after a
thorough informed consent discussion with their health
care providers and their respective parents or guardians,
if appropriate. Surgical creation of a vagina requires
ongoing postoperative dilation or vaginal intercourse to
maintain adequate vaginal length and diameter.
The aim of surgery is the creation of a vaginal canal
in the correct axis of adequate size and secretory capacity
to allow intercourse. The timing of the surgery depends
on the patient and the type of procedure planned.
Surgical procedures often are performed in late adoles-
cence or young adulthood (ages 17–21 years) when the
patient is mature enough to be able to adhere to postop-
erative dilation. Because patient motivation is an impor-
tant component of successful outcomes, it is wise to delay
surgical therapy until the patient is ready to engage in
vaginal intercourse.
A number of surgical techniques can be used to create
a neovagina. The approach usually is based on the experi-
ence of the operating surgeon. Regardless of the technique
chosen, referrals to centers with expertise should be
considered. The surgeon must be experienced with the
procedure because the initial procedure is more likely to
succeed than follow-up procedures. Reoperation in these
cases increases the chance of operative injury to surround-
ing tissues and the possibility of a poor functional out-
come. At present, there is no consensus in the literature
regarding the best option for surgical correction to afford
the best functional outcome and sexual satisfaction (19).
Historically, the most common surgical procedure
used to create a neovagina has been the modified Abbe–
McIndoe operation. This procedure involves the dis-
section of a space between the rectum and bladder,
placement of a mold covered with a split-thickness skin
graft into the space, and the diligent use of vaginal dila-
tion postoperatively. Postoperative dilation is essential to
prevent significant skin graft contracture; therefore, this
technique is inappropriate if the patient has concerns
about or objects to dilation. The dilators must be inter-
mittently used until the woman engages in regular and
frequent sexual intercourse.
Other procedures for the creation of the neova-
gina are the Vecchietti procedure and other laparoscopic
modifications of operations previously performed by
1136 Committee Opinion Müllerian Agenesis
laparotomy (20). The laparoscopic Vecchietti procedure
is a modification of the open technique where a neovagina
is created using continuous dilation with an external trac-
tion device that is temporarily affixed to the abdominal
wall (21). Davydov developed a three-stage operation,
which requires dissection of the rectovesicular space with
abdominal mobilization of a segment of the peritoneum,
and subsequent attachment of the peritoneum to the
introitus (9, 22–24). Other techniques, such as bowel
graft neovagina, use of buccal mucosa, amnion, and vari-
ous other allografts, are less commonly applied to women
with müllerian agenesis.
General Gynecologic Care
Women who have a history of müllerian agenesis and
have created a functional vagina require routine gyne-
cologic care. Regular pelvic examinations should be
performed to examine for vaginal stricture or stenosis.
Sexually active women with müllerian agenesis should
be aware that they are at risk of sexually transmitted
diseases and, thus, should use condoms and be appro-
priately screened according to guidelines for women
without müllerian agenesis. In addition, vaginal speculum
examination and inspection should be performed to look
for possible malignancies (in cases of skin graft or bowel
vaginas), colitis, ulceration (in cases of bowel vaginas),
or other problems. Routine vaginal cytologic testing is
not recommended. Insufficient evidence is available to
guide the decision for human papillomavirus vaccina-
tion of women with dilated or surgically created vaginas,
although the theoretic risk of vaginal neoplasia and genital
warts is present (25).
Conclusion
The most important steps in the effective management of
müllerian agenesis are correct diagnosis of the underlying
condition, evaluation for associated congenital anoma-
lies, and psychosocial counseling before any treatment
or intervention to address the functional and emotional
effects of genital anomalies. Laparoscopy is seldom
required to make the diagnosis but may be appropriate in
the patient presenting with pelvic pain. Nonsurgical cre-
ation of the neovagina should be the first-line approach.
In cases in which surgical intervention is required, refer-
rals to centers with expertise in this area should be con-
sidered because few surgeons have extensive experience in
construction of the neovagina.
Resources
The following resources are for information purposes only. Referral to these
sources and web sites does not imply the endorsement of ACOG. These
resources are not meant to be comprehensive. The exclusion of a source or
web site does not reflect the quality of that source or web site. Please note
that web sites are subject to change without notice.
MRKH Organization, Inc.
PO Box 301494, Jamaica Plain, MA 02130
http://www.mrkh.org
OBSTETRICS & GYNECOLOGY
Center for Young Women’s Health
333 Longwood Avenue, 5th floor
Boston, MA 02115
(617) 355-2994
http://www.youngwomenshealth.org
Center for Young Women’s Health. MRKH: a guide for
teens. Available at: http://www.youngwomenshealth.org/
mrkh_teen.html. Retrieved January 31, 2013.
Center for Young Women’s Health. MRKH: a guide for
parents and guardians. Available at: http://www.youngwo-
menshealth.org/mrkh_parent.html. Retrieved January 31,
2013.
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Copyright May 2013 by the American College of Obstetricians and
Gynecologists, 409 12th Street, SW, PO Box 96920, Washington, DC
20090-6920. All rights reserved.
Müllerian agenesis: diagnosis, management, and treatment. Commit-
tee Opinion No. 562. American College of Obstetricians and Gyne-
cologists. Obstet Gynecol 2013;121:1134–7.
Committee Opinion Müllerian Agenesis 1137