| Mullerian agenesis Classification and external resources |
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| ICD-10 | Q51.0, Q52.0 |
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| ICD-9 | 626.0 |
| OMIM | 158330 |
| DiseasesDB | 8390 |
Mullerian agenesis refers to a condition in a female where the mullerian ducts fail to develop and a uterus will not be present. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings Q00-Q89 - Congenital malformations and deformations (Q00-Q07 Nervous system ( Anencephaly and similar malformations Q00-Q89 - Congenital malformations and deformations (Q00-Q07 Nervous system ( Anencephaly and similar malformations The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them The Diseases Database is a free Website that provides information about the relationships between medical conditions Symptoms, and Medications. The Müllerian ducts (or paramesonephric ducts) are paired ducts of the Embryo which run down the lateral sides of the Urogenital ridge and terminate at It is the second most common cause of primary amenorrhea. Amenorrhoea ( BE) amenorrhea ( AmE) or amenorrhœa, is the absence of a Menstrual period in a woman of reproductive age
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. Baron Carl von Rokitansky ( German: Carl Freiherr von Rokitansky, Czech: Karel Rokytanský) ( February 19, 1804 &ndash A. Hauser.
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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. Thelarche is the first stage of secondary (postnatal Breast development usually occurring at the beginning of Puberty in girls Adrenarche refers to a stage of maturation of the cortex of the human Adrenal glands It typically occurs between ages 6 and 10 years and involves both structural and functional 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. Gynecologic ultrasonography or Gynecologic sonography refers to the application of Medical ultrasonography to the female pelvic organs specifically the Uterus The cervix (from Latin "neck" is the lower narrow portion of the Uterus where it joins with the top end of the Vagina. The uterus (from the Latin word for womb) is the major Female reproductive organ of most Mammals including Humans One end the The vagina (from Latin, literally " Sheath " or " Scabbard " is a fibromuscular tubular tract leading from the Uterus
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. In vitro fertilisation ( IVF) is a process by which 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. In vitro fertilisation ( IVF) is a process by which Embryo transfer refers to a step in the process of in vitro fertilization (IVF whereby one or several Embryos are placed into the Uterus Surrogacy is a method of Reproduction whereby a woman agrees to become pregnant and deliver a child for a contracted party 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. A stenosis ( Plural: stenoses; from Ancient Greek στένωσις "narrowing" is an abnormal narrowing in a Blood vessel 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. Laparoscopic surgery, also called Minimally invasive surgery (MIS, bandaid surgery, Keyhole surgery, or pinhole surgery [1][2]
Emotional help is available in various support groups across the internet.
See also
References
- ^ Vecchietti G. Creation of an artificial vagina in Rokitansky-Kuster-Hauser syndrome. Attual Ostet Ginecol 1965;11:131-47
- ^ Fedele L, Bianchi S, Tozzi L, Borruto F, Vignali M, A new laparoscopic procedure for creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril 1996;66:854-7
External links
The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links themDapyx Software network: MP3 Explorer | Ebook Manager | Zenithic