What anomaly is associated more commonly with Mayer-Rokitansky-Kuster-Hauser Syndrome?

Question:

	1. Urinary tract abnormalities.
	2. Skeletal anomalies.
	3. Renal agenesis or ectopia.
	4. Hearing problems.
	5. Vaginal septum.

Answer:

The correct answer for the question "What anomaly is associated more commonly with Mayer-Rokitansky-Kuster-Hauser Syndrome?" is:

3. Renal agenesis or ectopia.

Explanation
1. Mayer-Rokitansky-Kuster-Hauser Syndrome may be isolated but it is more frequently associated with renal, vertebral, and, to a lesser extent, auditory and cardiac defects [Duncan et al in 1979, in a review of 30 cases proposed the designation of the entity consisting of anomalies of all 3 systems as "MURCS Association". The four most common malformations specifically described in the association are: 1. uterine hypoplasia or aplasia, 2. renal agenesis or ectopy, 3. vertebral anomalies and 4. adult stature less than 152 cms].

2. Mayer-Rokitansky-Kuster-Hauser Syndrome in frequently associated with sheletal anomalies [Mayer-Rokitansky-Kuster-Hauser Syndrome has been reported in association with vertebral anomalies, rib anomalies, hypoplastic or absent radii, abnormalities of the carpal bones and hypoplastic phalanges. The only lower limb abnormality reported has been bilateral femoral hypoplasia]

3. The urinary and genital system development is embryological associated. [Mayer-Rokitansky-Kuster-Hauser Syndrome Type II is associated in 40% of cases with kidney abnormalities (15% of these girls/women will be born with only one kidney)].

4. A rare atypical subgroup of Mayer-Rokitansky-Kuster-Hauser Syndrome type II is called GRES .[10% will have hearing problems][Strubbe et al. suggested that two separate subgroups existed - the typical group which included those with an isolated form of congenital agenesis of the vagina and uterus and the atypical group which included those with obligatory characteristic finding of agenesis of the vagina and uterus in addition to extra-genital features, including asymmetrical muscle buds and renal anomalies, amongst others. The term Genital Renal Ear Syndrome (GRES) syndrome was suggested for this latter atypical group]

5. Vaginal septum is no frequently associated with Mayer-Rokitansky-Kuster-Hauser Syndrome. [The Müllerian anomalies include a unicornuate or bicornuate uterus, complete duplication of the uterus, or various types of vaginal abnormality such as a vaginal septum].

From the manuscript:
Mayer-Rokitansky-Kuster-Hauser Syndrome diagnosed by Magnetic Resonance Imaging. Role of Imaging to identify and evaluate the uncommon variation in development of the female genital tract.
Radiology Case. 2012 Apr; 6(4):17-24

This article belongs to the OB/GYN section.

From the manuscript

Mayer-Rokitansky-Kuster-Hauser Syndrome diagnosed by Magnetic Resonance Imaging. Role of Imaging to identify and evaluate the uncommon variation in development of the female genital tract.

Free full text article: Mayer-Rokitansky-Kuster-Hauser Syndrome diagnosed by Magnetic Resonance Imaging. Role of Imaging to identify and evaluate the uncommon variation in development of the female genital tract.

Abstract
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a spectrum of Muellerian duct anomalies characterized by congenital aplasia of the uterus and of the upper part (2/3) of the vagina, in young women presenting otherwise with normal endocrine status. The ovaries and fallopian tubes are present. It is one of the most common causes of primary amenorrhea and affects at least 1 out of 4500 women. Its penetrance varies, as does the involvement of other organ systems and itcan be isolated (type I) or associated with other malformations (type II). The MRKH syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal development of secondary sexual characteristics, so imaging evaluation can demonstrate in one setting, non invasively, the anomalies in development of genital tract. We report a case of MRKH syndrome in a 16-year-old woman who presented with primary amenorrhea, stressing the role and benefit of imaging in the differential diagnosis.

References

1. Oppelt P, Renner SP, Kellermann A. Clinical aspects of MRKH syndrome: recommendations for clinical diagnosis and staging. Hum Reprod 2006; 21: 792