Rokitansky Syndrome

Rokitansky syndrome, also known as Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) or Müllerian Agenesis, is a rare condition affecting 1 in 4000–5000 people. Because of an atypical development of the Müller ducts, it is characterized by the absence of the uterus and upper third of the vagina since birth. The karyotype of individuals with MRKH is 46,XX. Ovaries are present and functional, and secondary sexual characteristics (e.g., breast development) are typically female. MRKH can occur alone (type 1), but is frequently associated with renal malformations (atypical form, type 2) and, to a lesser extent, with systemic defects – Urinary, Cardiac and Skeletal Malformations (MURCS, type 3). Rokitansky syndrome is counted among of Variation of Sex Characteristic (VSC)/Difference of Sex Developmente (DSD):

Genetic traits
The aetiology of MRKH is unclear and still controversial. Both sporadic and familial cases have been reported.

Identification
Upon physical examination, the external genitalia are typically female. Generally, a vaginal “dimple” can be seen, whose length ranges from a few millimetres to 7-13 cm. The absence of a uterus and the presence of ovaries, as well as of rudimentary Müllerian structures (i.e., those forming the uterus and upper third of the vagina, found in 90% of people with MRKH), can be ascertained with pelvic ultrasound. Abdominal ultrasound, in turn, allows the evaluation of congenital abnormalities in the urinary tract, if any. The use of MRI can help determine the presence of rudimentary Müllerian structures and endometrial tissue inside them (layer of tissue that lines the uterine cavity).

Medical options
The options for individuals with MRKH include psychosocial support and the treatment of anatomical atypias. Everyone should be offered psychological counselling, and encouraged to connect with peer support groups. Different future motherhood options should also be addressed. It is important to note that both proposing a therapy and deciding to undertake it are not urgent matters: the person must have enough time to reflect on the diagnosis and possible therapies.

According to the most recent international recommendations for those interested in vaginal penetrative intercourse, the first-line treatment of vaginal agenesis (partial or total absence of the vagina), is the highly successful, non-surgical option of vaginal dilators. Surgery is reserved for those cases where dilator therapy has failed or if the person strongly desires it.

Bibliography
Callens N et al. An update on surgical and non-surgical treatments for vaginal hypoplasia. Human reproduction update. 2014 Sep-Oct;20(5):775-801
Committee on Adolescent Health Care. ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment. Obstetrics & Gynecology. 2018 Jan;131(1):e35-e42
Fontana L et al. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Clinical Genetics. 2017 Feb;91(2):233-246
Oppelt P et al. Clinical aspects of Mayer – Rokitansky – Kuster – Hauser syndrome: recommendations for clinical diagnosis and staging. Human Reproduction. 2006;21:792–797. doi: 10.1093/humrep/dei381

Further Links
Orphanet. Mayer-Rokitansky-Küster-Hauser syndrome