Rokitansky syndrome

Müllerian agenesis
Classification and external resources
ICD-10 9 OMIM DiseasesDB 8390

Müllerian agenesis is a congenital malformation characterized by a failure of the Müllerian duct to develop, resulting in a missing uterus and variable malformations of the upper portion of the vagina. It is the third most common cause of primary amenorrhoea after pregnancy and gonadal failure (such as from Turner syndrome). The condition is also called Mayer-Rokitansky-Kuster-Hauser syndrome or MRKH, named after August Franz Joseph Karl Mayer, Carl Freiherr von Rokitansky, Hermann Kuster, and G. A. Hauser. A review of the literature can be found in the Orphanet Journal of Rare Diseases [1]

Signs and Symptoms

An individual with this condition is hormonally normal; that is, they will enter puberty with development of secondary sexual characteristics including thelarche and adrenarche (pubic hair). Their 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, people with MRKH cannot carry a pregnancy. However, it is possible for them to have genetic offspring by in vitro fertilization (IVF) and surrogacy. Treatment by uterine transplantation is still in its infancy.[2]

People with MRKH typically discover the condition when, during puberty years, the menstrual cycle does not start (primary amenorrhoea). Some find out earlier through surgeries for other conditions, such as a hernia.

Classification

  • Typical MRKH – Isolated uterovaginal aplasia/hypoplasia
    • Prevalence – 64 percent
  • Atypical MRKH – Uterovaginal aplasia/hypoplasia with renal malformation or uterovaginal aplasia/hypoplasia with ovarian dysfunction
    • Prevalence – 24 percent
  • MURCS syndrome – Uterovaginal aplasia/hypoplasia with renal malformation, skeletal malformation, and cardiac malformation
    • Prevalence – 12 percent[3]

Causes

WNT4 has been clearly implicated in the atypical version of this disorder. A genetic mutation causes a leucine to proline residue substitution at amino acid position 12.[3] This occurrence reduces the intranuclear levels of β catenin. In addition, it removes the inhibition of steroidogenic enzymes like 3β-hydroxysteriod dehydrogenase and 17α-hydroxylase. Patients therefore have androgen excess.[3] Furthermore, without WNT4, the Müllerian duct is either deformed or absent. Female reproductive organs, such as the cervix, fallopian tubes, ovaries, and much of the vagina, are hence affected.[4]

An association with a deletion mutation in chromosome 17 (17q12) has been reported. The gene LHX1 is located in this region and may be the cause of a number of these cases.[5]

Prevalence

The estimated prevalence is 1 in 5000 people with XX chromosomes. Queen Amalia of Greece was found post mortem to have had the syndrome.[6] Her inability to provide an heir contributed to the overthrow of her husband, King Otto.[6]

Treatment

Although there are treatments to increase the comfort in sexual intercourse, there are none that can make pregnancy possible. There are plans by United Kingdom 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 ovaries are present, people with this condition can have genetic children through IVF with embryo transfer to a gestational carrier. Some also choose to adopt.

It may be necessary to use vaginal dilators or surgery to develop a functioning vagina to allow for penetrative sexual intercourse. A number of surgical approaches have been used. In the McIndoe procedure[7] 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.[8][9] 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.[10]

Emotional help is available in various support groups across the internet.

See also

  • MURCS association

References

External links

  • Online 'Mendelian Inheritance in Man' (OMIM) 277000
  • MRKH Organization
  • MRKH UK
  • The National Centre for Adolescent and Adult Females with Congenital Abnormalities of the Genital Tract (UK)
  • MRKH FAQ
  • MRKH Support at askaboutMRKH
  • Mayer-Rokitansky-Kuster-Hauser Syndrome on WebMD
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