Abstract
Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome, also known as Mullerian aplasia/Mullerian agenesis, is characterized by the absence of the uterus and upper two-thirds of the vagina in women who have normal ovarian function and secondary sexual characteristics. The syndrome occurs at a rate of approximately 1 in every 4500–5000 females. Its primary clinical presentation is primary amenorrhea. MRKH syndrome varies in severity and is classified into two types: type I, which is isolated, and type II, involving abnormalities in other organ systems, particularly the kidneys and skeleton. Due to the nature of this condition, individuals with MRKH syndrome may experience significant psychological challenges, highlighting the importance of counseling. This case report describes the diagnosis of type II MRKH syndrome in a 14-year-old girl with primary amenorrhea, also associated with Mullerian duct aplasia–renal dysplasia–cervical somite anomalies.
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