Mullerian agenesis
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| Mullerian agenesis Classification and external resources | |
| ICD-10 | Q51.0, Q52.0 |
|---|---|
| ICD-9 | 626.0 |
| OMIM | 158330 |
| DiseasesDB | 8390 |
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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.
The condition is also called MRKH or Mayer-Rokitansky-Küster-Hauser Syndrome, named after August Franz Joseph Karl Mayer, Carl Freiherr von Rokitansky, Hermann Küster, 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 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 a complete or partial absence of the cervix, uterus, and vagina.
Since 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. Uterine transplantation is currently not a treatment that can be offered as the technology is still in its infancy.
Women with MRKH typically discover the condition when, during puberty years, the menstrual cycle does not start. Some women find out earlier through surgeries for other conditions, such as a hernia.
Other, less common symptoms include kidney problems, hearing loss, and bone malformations.
Prevalence
The estimated prevalence is 1 in 5000 women. A genetic cause is likely (see OMIM).
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 transplant 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 is a laparoscopic procedure that has been shown to result in a vagina that is comparable to a normal vagina in patients with Mullerian agenesis.[1][1]
Emotional help is available in various support groups across the internet. With the internet and these support groups, women with MRKH feel less like they do not belong, and are able to deal with the syndrome with more confidence and security.
See also
References
External links
Congenital malformations and deformations of genital organs and urinary system (Q50-Q64, 752-753) | |
|---|---|
| Genital organs (overview) | female: Uterine malformation - Mullerian agenesis - Uterine didelphys - Clitoromegaly
male: Cryptorchidism - Hypospadias - Chordee - Monorchism - Micropenis - Penile agenesis Pseudohermaphroditism |
| Urinary system | kidney/ureter: Renal agenesis/Potter syndrome, Papillorenal syndrome - cystic (Polycystic kidney disease, Meckel syndrome, Multicystic dysplastic kidney) - Ectopic ureter - Horseshoe kidney - Renal ectopia
bladder/urethra: Epispadias - Bladder exstrophy urachus: Urachal cyst |
| See also non-congenital reproductive and urinary conditions (N, 580-629) | |
fr:Syndrome de Rokitansky-Küster-Hauser he:תסמונת רוקיטנסקי nl:Syndroom van Mayer-Rokitansky-Küster
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
