Cadaveric case report of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type II

Background

During a routine cadaver dissection, findings led to the recognition of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. MRKH is the second most common cause of primary amenorrhea in females. MRKH, also known as Müllerian aplasia, is a rare congenital disorder that is seen in 1 out of 5000 karyotypic females (46,XX). Patients with MRKH present with agenesis/aplasia of the uterus and the upper two thirds of the vagina. There are two different subtypes of MRKH. In Type I, only uterovaginal agenesis is seen. However, patients with MRKH Type II have uterovaginal agenesis including the absence of one or both fallopian tubes and ovaries, along with abnormalities of the kidney or skeleton. A subgroup of MRKH Type II is termed MURCS (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia) because of the severity of malformations seen in multiple extragenital organs including the kidney and skeleton. A patient with Type II is the rarest of the two subtypes occurring in 28–44 % of MRKH patients when compared to the occurrence of Type I, 56–72 %.

Methods/results

Routine dissection of embalmed 63-year-old Caucasian female cadaver and inspection of various anatomical systems revealed this donor had MRKH type II with MURCS. Herein, reports the anatomical manifestations of MRKH type II with MURCS.

Conclusion

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare congenital disorder that is seen in 1 out of 5000 karyotypic females (46, XX). Patients with MRKH present with agenesis/aplasia of the uterus and the upper two thirds of the vagina. The discovery of MRKH in this cadaver was found upon routine dissection. Such findings provide insight into the anatomical implications and organ compensation that can occur over time with this pathology.