Mullerian agenesis
Encyclopedia
Müllerian agenesis is a congenital malformation in women characterised by a failure of the müllerian ducts to develop, resulting in a missing uterus
and fallopian tubes and variable malformations of the upper portion of the vagina
. It is the second most common cause of primary amenorrhea after gonadal failure (such as from Turner syndrome
). The condition is also called MRKH or Mayer-Rokitansky-Küstner-Hauser Syndrome, named after August Franz Joseph Karl Mayer, Carl Freiherr von Rokitansky
, Hermann Küstner, and G. A. Hauser.
and adrenarche
(pubic hair). Her chromosome constellation will be 46,XX. Ovaries are intact and ovulation usually occurs. Typically, the vagina is shortened and intercourse may, in some cases, be difficult and painful. Medical examination supported by gynecologic ultrasonography
demonstrates a complete or partial absence of the cervix
, uterus
, and vagina
.
If there is no uterus, women with MRKH cannot carry a pregnancy. However, it is possible for these women to have genetic offspring by in vitro fertilisation
(IVF) and surrogacy
. Treatment by uterine transplantation is still in its infancy.
Women with MRKH typically discover the condition when, during puberty years, the menstrual cycle does not start (primary amenorrhea). Some women find out earlier through surgeries for other conditions, such as a hernia.
There are two forms of MRKH. One is associated with the absence of just the vagina and uterus, while the other affects additional parts of the body, too. Of those suffering from the latter form, 40% will have kidney abnormalities (15% of these girls/women will be born with only one kidney), 10% will have hearing problems, and 10-12% will have skeletal abnormalities.
In 1988, a teenager living in the small southern African nation of Lesotho
came to local doctors with all the symptoms of a woman in labor. The doctors were puzzled, however, because she did not have a vagina, only a shallow skin dimple. Doctors traced her pregnancy to a knife wound to her abdomen 278 days earlier, after she had practiced fellatio on her boyfriend. The sperm had leaked from her stomach to her abdominal cavity and fertilized one of her eggs. This case was reported by Dr. Richard Paulson, head of the University of Southern California Fertility Program in Los Angeles, February 3, 2010.
. Another prominent woman who suffered from the sydrome was Eva Braun.
that would allow these women to carry their own child, but no transplant has yet been successful in producing a child. Since the women do have ovaries, women with this condition can have genetic children through IVF with embryo transfer
to a gestational carrier. Some women also choose to adopt.
It may be necessary to use vaginal dilators or surgery to develop a functioning vagina to allow for satisfactory sexual intercourse. A number of surgical approaches have been used. In the McIndoe procedure a skin graft is applied to form an artificial vagina
. After the surgery, dilators are still necessary to prevent vaginal stenosis
. The Vecchietti procedure has been shown to result in a vagina that is comparable to a normal vagina in patients with Müllerian agenesis. In the Vecchietti procedure, a small plastic “olive” is threaded against the vaginal area, and the threads are drawn through the vaginal skin, up through the abdomen and through the navel using laparoscopic surgery
. There the threads are attached to a traction device. The operation takes about 45 minutes. The traction device is then tightened daily so the olive is pulled inwards and stretches the vagina by approximately 1 cm per day, creating a vagina approximately 7 cm deep in 7 days, although it can be more than this.
Emotional help is available in various support groups across the internet.
Uterus
The uterus or womb is a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species...
and fallopian tubes and variable malformations of the upper portion of the vagina
Vagina
The vagina is a fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles. Female insects and other invertebrates also have a vagina, which is the terminal part of the...
. It is the second most common cause of primary amenorrhea after gonadal failure (such as from Turner syndrome
Turner syndrome
Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
). The condition is also called MRKH or Mayer-Rokitansky-Küstner-Hauser Syndrome, named after August Franz Joseph Karl Mayer, Carl Freiherr von Rokitansky
Carl Freiherr von Rokitansky
Baron Carl von Rokitansky , was a Bohemian physician, pathologist, humanist philosopher and liberal politician.-Medical career:...
, Hermann Küstner, and G. A. Hauser.
Signs and symptoms
A woman with this condition is hormonally normal; that is, she will enter puberty with development of secondary sexual characteristics including thelarcheThelarche
Thelarche is the onset of secondary breast development, usually occurring at the beginning of puberty in girls. Its etymology is from Greek θηλή [tʰelḗ], “nipple” and ἀρχή [arkʰḗ], “beginning, onset”. Thelarche is usually noticed as a firm, tender lump directly under the centre of the nipple...
and adrenarche
Adrenarche
Adrenarche is an early sexual maturation stage in some higher primates that in humans typically occurs at around 6 to 8 years of age. During adrenarche the adrenal cortex secretes increased levels of androgens such as DHEA and DHEAS, but without increased cortisol levels. Adrenarche is the result...
(pubic hair). Her chromosome constellation will be 46,XX. Ovaries are intact and ovulation usually occurs. Typically, the vagina is shortened and intercourse may, in some cases, be difficult and painful. Medical examination supported by gynecologic ultrasonography
Gynecologic ultrasonography
Gynecologic ultrasonography or Gynecologic sonography refers to the application of medical ultrasonography to the female pelvic organs, specifically the uterus, the ovaries, the Fallopian tubes, as well as the bladder, the adnexa, the Pouch of Douglas, and any findings in the pelvis of relevance...
demonstrates a complete or partial absence of the cervix
Cervix
The cervix is the lower, narrow portion of the uterus where it joins with the top end of the vagina. It is cylindrical or conical in shape and protrudes through the upper anterior vaginal wall...
, uterus
Uterus
The uterus or womb is a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species...
, and vagina
Vagina
The vagina is a fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles. Female insects and other invertebrates also have a vagina, which is the terminal part of the...
.
If there is no uterus, women with MRKH cannot carry a pregnancy. However, it is possible for these women to have genetic offspring by in vitro fertilisation
In vitro fertilisation
In vitro fertilisation is a process by which egg cells are fertilised by sperm outside the body: in vitro. IVF is a major treatment in infertility when other methods of assisted reproductive technology have failed...
(IVF) and surrogacy
Surrogacy
Surrogacy is an arrangement in which a woman carries and delivers a child for another couple or person. This woman may be the child's genetic mother , or she may carry the pregnancy to delivery after having an embryo, to which she has no genetic relationship whatsoever, transferred to her uterus...
. Treatment by uterine transplantation is still in its infancy.
Women with MRKH typically discover the condition when, during puberty years, the menstrual cycle does not start (primary amenorrhea). Some women find out earlier through surgeries for other conditions, such as a hernia.
There are two forms of MRKH. One is associated with the absence of just the vagina and uterus, while the other affects additional parts of the body, too. Of those suffering from the latter form, 40% will have kidney abnormalities (15% of these girls/women will be born with only one kidney), 10% will have hearing problems, and 10-12% will have skeletal abnormalities.
In 1988, a teenager living in the small southern African nation of Lesotho
Lesotho
Lesotho , officially the Kingdom of Lesotho, is a landlocked country and enclave, surrounded by the Republic of South Africa. It is just over in size with a population of approximately 2,067,000. Its capital and largest city is Maseru. Lesotho is a member of the Commonwealth of Nations. The name...
came to local doctors with all the symptoms of a woman in labor. The doctors were puzzled, however, because she did not have a vagina, only a shallow skin dimple. Doctors traced her pregnancy to a knife wound to her abdomen 278 days earlier, after she had practiced fellatio on her boyfriend. The sperm had leaked from her stomach to her abdominal cavity and fertilized one of her eggs. This case was reported by Dr. Richard Paulson, head of the University of Southern California Fertility Program in Los Angeles, February 3, 2010.
Causes
The cause of MRKH is unknown. Several genes have been tested to study the possibility of the syndrome being genetic, but no single factor has yet been identified to be responsible for it. What doctors do know is that when a fetus grows in a mother’s uterus, many systems develop, including the reproductive system (which includes the uterus, vagina, fallopian tubes, and ovaries). This system is formed during the first few months of a fetus growing in a mother’s womb. With MRKH, the reproductive system starts to develop, but it doesn’t completely finish.Prevalence
The estimated prevalence is 1 in 5000 women. Queen Amalia of Greece was found postmortem to have had the syndrome. Her inability to provide an heir contributed to the overthrow of her husband, King Otto of GreeceOtto of Greece
Otto, Prince of Bavaria, then Othon, King of Greece was made the first modern King of Greece in 1832 under the Convention of London, whereby Greece became a new independent kingdom under the protection of the Great Powers .The second son of the philhellene King Ludwig I of Bavaria, Otto ascended...
. Another prominent woman who suffered from the sydrome was Eva Braun.
Treatment
Although there are treatments to increase the comfort in sexual intercourse, there are none to let the woman herself become pregnant. There are plans by UK and Swedish doctors for a uterine transplantUterine transplant
A uterine transplant is the transplantation of a uterus in order to replace one which has undergone necrosis or in Müllerian agenesis. Though the procedure has significant potential, it has been performed only a few times.-History:...
that would allow these women to carry their own child, but no transplant has yet been successful in producing a child. Since the women do have ovaries, women with this condition can have genetic children through IVF with embryo transfer
Embryo transfer
Embryo transfer refers to a step in the process of assisted reproduction in which embryos are placed into the uterus of a female with the intent to establish a pregnancy...
to a gestational carrier. Some women also choose to adopt.
It may be necessary to use vaginal dilators or surgery to develop a functioning vagina to allow for satisfactory sexual intercourse. A number of surgical approaches have been used. In the McIndoe procedure a skin graft is applied to form an artificial vagina
Vaginoplasty
thumb|right|300px|Vaginoplasty: the pre-operative aspect , and the post-operative aspect of a [[Labiaplasty|labial reduction]].Vaginoplasty is a reconstructive plastic surgery procedure for correcting the defects and deformities of the vaginal canal and its mucous membrane, and of vulvo-vaginal...
. After the surgery, dilators are still necessary to prevent vaginal stenosis
Stenosis
A stenosis is an abnormal narrowing in a blood vessel or other tubular organ or structure.It is also sometimes called a stricture ....
. The Vecchietti procedure has been shown to result in a vagina that is comparable to a normal vagina in patients with Müllerian agenesis. In the Vecchietti procedure, a small plastic “olive” is threaded against the vaginal area, and the threads are drawn through the vaginal skin, up through the abdomen and through the navel using laparoscopic surgery
Laparoscopic surgery
Laparoscopic surgery, also called minimally invasive surgery , bandaid surgery, or keyhole surgery, is a modern surgical technique in which operations in the abdomen are performed through small incisions as opposed to the larger incisions needed in laparotomy.Keyhole surgery makes use of images...
. There the threads are attached to a traction device. The operation takes about 45 minutes. The traction device is then tightened daily so the olive is pulled inwards and stretches the vagina by approximately 1 cm per day, creating a vagina approximately 7 cm deep in 7 days, although it can be more than this.
Emotional help is available in various support groups across the internet.