Mullerian Agenesis: Clinical Presentation and Treatment

The Mullerian system gives rise to the internal genitalia of a female. Mullerian agenesis is caused by embryologic underdevelopment of the Mullerian duct that results in agenesis or atresia of the vagina Or uterus. The uterus is made up of two halves and in Mullerian agenesis, there can be lateral fusion defects or vertical fusion defects.

                               Mullerian Duct Derivatives

Male Internal genitalia is derived from Wolffian/Mesonephric duct and Female Internal genitalia are derived from Mullerian/ Paramesonephric duct.

Clinical Presentation

• Infertility
• Recurrent pregnancy loss
• Abnormal menstrual cycles
• Primary amenorrhea

Also Read: Trichomoniasis: Symptoms, Causes, Risk Factors, Complications, Diagnosis, Treatment and Prevention

Mullerian Agenesis Anomalies

Vertical Fusion Defects

• Transverse Vaginal Septum- the patient will present with hematometra and hematoma vagina and the intervention will be vaginoplasty.
• Vaginal Atresia- the intervention required here is vaginoplasty.
• Cervicovaginal Atresia- the intervention required here is vaginoplasty.
• Complete Mullerian Agenesis- the patient will be required 2 get vaginoplasty 3-4 months before whenever sex is planned.

Imperforate Hymen

• It is not basically a mullerian anomaly as all of the mullerian structures are normal.
• The patient will present with cryptomenorrhea which is hidden menstruation. It is due to regular menstruation and also the patient will feel cyclical pain every month, but there is no external bleeding and the patient will present with primary amenorrhea.
• Hematocolpos can compress the urethra against pubic symphysis and that can lead to urinary retention. 
• There is also an increased risk of endometriosis. 
• The intervention required here is a cruciate incision in the hymen and the incision is given along the edges.

Lateral Fusion Defects

• Didelphys – The uterus didelphys is a lateral fusion defect and there is an increased incidence of retrograde menstruation leading to an increased risk of endometriosis.
• This kind of defect has a good reproductive outcome and therefore requires no treatment; however, in pregnancy, there is an increased risk of breach presentation and preterm labor.
• Unicornuate Uterus- In this kind of mullerian defect the known communicating rudimentary horns can lead to the development of hematocele or even cause retrograde menstruation causing endometriosis.
• This kind of anomaly is considered to have the worst pregnancy outcome because there is a risk of abortions and preterm labor.
•  There is a communicating horn that will lead to an ectopic pregnancy.
• Septate uterus- It is the most common type of Mullerian defect.
  • In this, the whole uterine cavity fuses but the septum remains. 
  • The distance between 2 horns is less than 4 cm and the fundus is flat. The uterine angle is less than 75° In pregnancy, there is a risk of transverse lie of a baby. 
• There are a lot of complications associated with this type of mullerian anomaly. The complications are infertility, preterm labor, and recurrent abortions.
•  Because of the presence of a lot of abnormalities, this type requires hysteroscopic septal resection surgery.
• Bicornuate uterus- This anomaly has two horns and the uterine angle is obtuse. The fundus is concave and the distance between the endometrium and the fundus is less than 5mm.
  • In pregnancy, it is associated with breech or transverse lie. There is a risk of preterm labor.
  • It is associated with recurrent abortions and requires A unification surgery. The surgery for this anomaly is Strassmann’s or Jones metroplasty.

Also Read: Infertility Treatment, Causes, Risk factors and Prevention

Diagnosis

The clinical evaluation plays an important role in diagnosing Mullerian agenesis. The classical presentation is a young girl with amenorrhea and urinary retention.

• MRI is considered to be the best imaging method to diagnose the Mullerian agenesis.
• Other diagnostic methods is diagnostic laparoscopy and hysteroscopy.

Also Read: Abnormal Uterine Bleeding Causes, Treatment, and Symptoms

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