Mayer-Rokitansky-Kuster-Hauser Syndrome (congenital total
or partial absence of uterus and vagina)
Dr. Nelson Soucasaux, Brazilian gynecologist
I read the sad and painful e-mail from the reader who was born with
the terrible Mayer-Rokitansky-Kuster-Hauser syndrome. In my opinion, this
letter should be an example for all the normal women who complain about
being normal and, therefore, menstruating! [The letter, the first of two
from people with this condition, is on the Would you
stop menstruating if you could? page.]
So, let me speak a little about this strange and painful condition -
which, fortunately, is very rare. Of course, this short article cannot give
a full account of the complexity of the syndrome and its several clinical
variations. Therefore, I only will speak here about its more typical and
frequent forms, because there are atypical ones.
The Mayer-Rokitansky-Kuster-Hauser syndrome is due to a congenital anomaly
in the development of the embryonic structures that originate the uterus,
Fallopian tubes and the two upper thirds of the vagina - the Müllerian
ducts. The more typical result is a clinical absence of the uterus, Fallopian
tubes and part of the vagina - mostly the two upper thirds of the organ,
because the vaginal entrance and the vulvar structures originate from another
embryonic source, the urogenital sinus. Sometimes there is no vagina at
all. A very small, rudimentary and solid uterus is often found - basically
an extremely atrophic remnant of the portion of the aforementioned Müllerian
ducts that should originate the uterus.
Fortunately the ovaries are usually normal in structure and function,
and this is due to the fact that they originate from other embryonic sources.
In this way, they produce estrogens and progesterone normally. The sexual
chromosomes are XX (typically female). On the other hand, abnormalities
in the development of the kidneys and other parts of the urinary system
can be present in many cases.
Briefly we can say that most women with the Rokitansky-Kuster-Hauser
syndrome (for short, MRKHauser syndrome, or "total or partial congenital
absence of uterus and vagina") are born with normal ovaries and normal
external genitals (vulvar structures), but without uterus, Fallopian
tubes and most of the vagina. Because of this, usually the disease is
only diagnosed at puberty or a little bit later, due to the absence of menarche
(primary amenorrhea) and, over and above all, when patients try to have
sexual intercourse and fail due to a physical impossibility. That obviously
happens because usually there is no vagina and penetration is impossible.
Sometimes only the lower third of the vagina is present.
On the other hand, as the ovaries are usually normal, they begin to
function at the normal age of puberty and, therefore, the development of
the so-called "secondary sexual features" is normal. In this way,
the development of the breasts, vulvar structures, pubic hair, as well as
the enlargement of the pelvis and the fat accumulation on the typically
female parts of the body - all of these usually initial puberal changes
- take place normally. Only menarche - the first menstruation - never comes.
Given all of this, primary amenorrhea is the first thing to call attention.
If the girl seeks medical assistance due to this primary amenorrhea (as
all of them should do in situations like these), the congenital absence
of uterus and vagina will be easily and promptly verified and diagnosed.
(Though I must say that many of the cases of primary amenorrhea are not
due to MRKHauser, but to hormonal disorders.) Nevertheless, if the total
absence of menstruations is not promptly investigated and no gynecologic
examination is made, the second clinical evidence of the syndrome will appear
at the first frustrated attempts of sexual intercourse (or any other kind
of intravaginal exploration).
Considering all of this, a basic rule in gynecology is to consider the
possibility of MRKHauser syndrome whenever we assist a patient with a basically
normal development of the secondary sexual features, but with primary amenorrhea
and physical impossibility of sexual intercourse.
The psychological trauma caused by the diagnosis and recognition of
the syndrome is obviously enormous, due to all of its extremely serious
implications. Needless to say, psychotherapy will be necessary. All kinds
of psychological support must be given. Imagine what it is for a woman to
know that she has no uterus and no vagina (or only very atrophic remnants
of these organs). It's terrible !!!
The "classical" physical treatment is the surgical construction
of an artificial vagina, by opening a "tunnel" where the normal
one should be present and covering this "tunnel" with skin grafts.
Presently there is a new technique using the pelvic peritoneum instead of
the skin grafts. The new vagina built in this way functions relatively well,
allowing sexual intercourse. In the classic Masters and Johnson's book "Human
Sexual Response" (published in the 1960's) there was already a detailed
study of the artificial vagina's response to sexual stimulation. For women
with the syndrome who have a small vagina, there have been non-surgical
attempts of enlarging it through gradual dilation methods.
Nevertheless - and it is very important to keep this in mind -, there
is another rare pathological condition also characterized by primary amenorrhea
and absence of uterus and vagina: a very strange syndrome formerly named
"testicular feminization" and, presently, "androgen insensitivity
syndrome." Therefore a careful differential diagnosis between MRKHauser
syndrome and testicular feminization has to be immediately and promptly
The great difference is that patients with testicular feminization (or
"androgen insensitivity syndrome") are genetically male (XY),
possess testicles (hidden in the pelvic cavity or found at
the inguinal canal or inside the labia majora), often have normal (or
almost normal) female external genitals, have no uterus,
no Fallopian tubes and no vagina (or only a very short
All of this is due to a congenital and genetically determined insensitivity
to the androgens. The enzyme that turns the androgens testosterone and
androstenedione into dihidrotestosterone (the one that effectively acts
upon most of the androgenic-receptors) is totally or partially absent in
these cases. This causes all those serious anomalies in the sexual differentiation
of originally male embryos. Children born with the syndrome are usually
raised as normal women, since in the more typical cases the external genitals
are female (or almost female). The absence of uterus and vagina commonly
are only diagnosed at puberty (as well as the hidden presence of testicles).
Most patients with androgen insensitivity syndrome look like women in almost
everything. [An article a few years ago mentioned that some fashion models
and very physically attractive women have this syndrome, which often includes
large breasts with small nipples and sparse pubic hair. About one woman
in 50, 000 has it.]
Finally, I must emphasize that the MRKHauser syndrome has nothing
to do with testicular feminization (androgen insensitivity syndrome).
Women with MRKHauser syndrome are genetically and gonadically normal
women (they are XX) and present normal ovaries; the reason why they
don't possess uterus and vagina is a congenital anomaly in the development
of the Müllerian ducts, the embryonic structures that originate the
uterus, the Fallopian tubes and most of the vagina. Thus, despite its terrible
implications, in a way it is a "localized" disease.
On the other hand, patients with testicular feminization constitute
one of the several kinds of the "intersexual conditions" - which
is much worse, since the entire sexual differentiation is affected. Biologically
they are "part" male, "part" female, but psychologically
they are female. Therefore, it is a highly complicated and extremely painful
clinical situation, both physically and psychologically.
P.S.: The term testicular feminization is going out of use and being
replaced by androgen insensitivity syndrome, but I think it still remains
quite simple and very didactic.
Copyright 2002 Nelson Soucasaux
Nelson Soucasaux is a gynecologist dedicated to clinical, preventive
and psychosomatic gynecology. Graduated in 1974 by Faculdade de Medicina
da Universidade Federal do Rio de Janeiro, Brazil, he is the author of several
articles published in medical journals and of the books "Novas Perspectivas
em Ginecologia" ("New Perspectives in Gynecology") and "Os
Órgãos Sexuais Femininos: Forma, Função, Símbolo
e Arquétipo" ("The Female Sexual Organs: Shape, Function,
Symbol and Archetype"), published by Imago Editora, Rio de Janeiro,
©2002 Harry Finley. It is illegal
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