Mullerian agenesis

What is Mullerian Agenesis ?

Mullerian agenesis is a congenital malformation, characterized by absence of uterus, fallopian tubes and internal part of the vagina. The uterus, fallopian tubes and malformation of the upper portion of the vagina occurs because the mullerian ducts fail to develop [1].

This is the most common cause of primary amenorrhea [2]. Mullerian Agenesis is alternatively known as Mayer – Rokitansky – Kuster – Hauser syndrome (MRKH). Such women have normal development of secondary sexual characteristics and chromosomal normal 46, XX karyotype [3].

Mullerian agenesis image photo picture

Mullerian agenesis ICD9 code

The icd9 code is a medical code that is used for generating claims and statistics for causes and deaths due to disease condition. The icd9 code for mullerian agenesis is 626 [4].

Mullerian agenesis incidence

  • About 1 in every 4000 – 5000 women in US suffers from mullerian agenesis [5, 6].
  • It has been estimated that about 15% and 12% of women with mullerian agenesis, suffer from defects of the urinary system and spine abnormalities respectively [4].
  • In some cases, the occurrence of mullerian agenesis appears to follow family history; whereas majority of the cases are sporadic in nature [7].
  • During the 16th century, Columbo reported the first case of vaginal agenesis [8].

Causes of Mullerian agenesis

Genetic and environmental factors have been thought to be the causative factors for mullerian agenesis. Due to genetic mutation during pregnancy, proline is substituted by leucine at the amino acid position 12 [5].

This in turn causes heterogeneous transformation of WNT4 gene that affects the appropriate formation of mullerian duct. The absence of this WNT4 gene causes either malformation or lack of the mullerian ducts. Female infants born with malformed or absent mullerian ducts, exhibit

  • Absent fallopian tubes
  • Absent or malformed uterus
  • Missing portion of vagina

Symptoms of Mullerian agenesis

Women with mullerian agenesis have either partially developed or completely absent uterus, vagina and cervix. Such women are hormonally normal, but may experience painful intercourse due to shortened vagina. The development of secondary sexual characteristics occurs on time, but menstrual cycle fails to take place [4, 5]. Following are the symptoms of mullerian agenesis [3, 4]

  • Primary amenorrhea
  • Renal abnormalities
  • Kidney problems
  • Bone deformity
  • Hearing impairment
  • Heart diseases
  • Spina bifida
  • Rib agenesis
  • Restricted movement of the neck
  • Facial asymmetry
  • Atrio – digital dysplasia

Diagnosis of mullerian agenesis

Mullerian agenesis remains undiagnosed until the affected girls attain puberty. When the menstrual cycle does not start at the right time, it should be considered as kind of a warning bell that can lead to the diagnosis of this condition. However, in certain cases, this condition also gets diagnosed during surgical procedures for treating certain disease conditions such as hernia [5].

Müllerian duct anomaly classification

Müllerian duct anomaly classification

Mullerian agenesis can be diagnosed by means of  –

  • Trans abdominal ultrasound – This is usually the first diagnostic procedure that is done for detecting mullerian agenesis. Researchers conclude that a 2 – dimensional ultrasound is not a reliable method of diagnosing this condition; instead a 3 – dimensional method should be used [9].
  • Sonohysterography – A hysteroscopy or hysterography can also be used for diagnosing this congenital birth defect. This test however, does not give complete information about the outer side of the uterus; hence other tests should also be conducted for a proper diagnosis[3].
  • MRI – This is a non-invasive technique and considered to be more sensitive in comparison to ultrasound for detecting uterus birth disorders.
  • X – ray – An x- ray, is also a non – invasive technique, and it also helps in the diagnosis of mullerian agenesis [10]. However this test alone cannot provide an appropriate conclusion; hence it should be used in conjunction with other diagnostic procedures.
  • Celioscopy – This is an invasive technique that requires the patient to stay in the hospital to get the process done. It is considered as a good method of diagnosing the abnormalities of the uterus and ovaries. This procedure is done in those women who require creation of neo – vagina.

Differential diagnosis

It is important that we distinguish the signs and symptoms of other disease from that of mullerian agenesis. This is so because; the signs and symptoms of other conditions may mask the actual diagnosis of this congenital defect. These consist of [3, 4]

  • Isolated vaginal atresia
  • WNT4 defects
  • Androgen insensitivity syndrome
  • Turner syndrome
  • Hermaphoditism
  • Congenital adrenal hyperplasia
  • Mullerian inhibiting substance deficiency

Treatment of mullerian agenesis

Treatment of mullerian agenesis is done when the women has attained adulthood and is biologically ready for sexual intercourse. The diagnosis of this congenital defect may be made during the adolescence years, but the treatment is delayed.

Treatment of mullerian agenesis is primarily aimed at making penetrative sexual intercourse comfortable for women. For this purpose, various surgical as well as non – surgical methods have been designed to develop functional or artificial vagina. These methods include –

  • Abbe – McIndoe procedure: In this procedure, a skin graft is done for creating an artificial vagina. Thereafter, dilators are used to prevent vaginal stenosis [11].
  • Vecchietti procedure – This procedure was introduced in the year 1965 and involves creation of a neovagina by means of traction [12]. various advancements and modifications were made and this method was reintroduced in the year 1992. In this method, with the help of laparoscopic surgery, a small olive or bead is threaded in the vaginal area and the threads are drawn through the vaginal skin, which is put through the abdomen and the navel. These threads are then attached to a traction device. The threads are tightened daily, which pulls the olive inwards and stretches the vagina by 1 cm daily. By this procedure, about 7cm deep vagina is created in 7 days.
  • Sigmoidal colpoplasty – This surgical method involves, grafting 12 – 18cm long sigmoid for creation of a neovagina. Precautions are taken not to impair the kidney function [3].
  • Franck’s dilator method – This is a non – surgical procedure for creating neo vagina. In this procedure dilators are placed on the perineal dimple for at least 20 minutes a day. However, this method is suitable for those women who have vaginal dimple that is about 2 – 4 cm deep [3].

It needs to be very well understood that women with this type of congenital defect cannot conceive. Uterine transplantation is being considered as one of the options by doctors of United Kingdom and Swedish, but so far no transplantation has yet been reported [5].

Due to the presence of ovaries women can also give birth through IVF – in vitro fertilization or via transferring the embryo to a gestational carrier.

Risk factors for mullerian agenesis

So far, heredity has been thought to be the sole risk factor for mullerian agenesis. It has been documented that inheritance increases the chances of this condition by 1 – 2%.

References:

  1. http://emedicine.medscape.com/article/273534-overview
  2. http://www.ncbi.nlm.nih.gov/pubmed/11023205
  3. http://www.ojrd.com/content/2/1/13
  4. http://www.primehealthchannel.com/mullerian-agenesis.html
  5. http://en.wikipedia.org/wiki/M%C3%BCllerian_agenesis
  6. http://www.neovaginasurgeons.com/docs/Mullerian%20Agenesis%20Etiology,%20Diagnosis,%20and%20Management.pdf
  7. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1368996/
  8. http://emedicine.medscape.com/article/273534-overview#aw2aab6b3
  9. http://journals.lww.com/obgynsurvey/Abstract/2000/10000/Mullerian_Agenesis__Etiology,_Diagnosis,_and.23.aspx
  10. http://www.emoryhealthcare.org/reproductive-center/fertility-information/additional-reproductive-conditions/birth-defects.html
  11. http://www.ncbi.nlm.nih.gov/pubmed/11744908
  12. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3015920/

Published on January 17th, 2018 by under Pregnancy.
Article was last reviewed on January 24th, 2018.

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