Abstract
Objective: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second more common cause of primary amenorrhea resulting from congenital absence of the vagina and agenesis or hypoplasia of the Mullerian (paramesonephric) ducts. Patients with MRKH syndrome have normal functioning ovaries with normal 46, XX karyotype and undergo puberty. On the contrary bilateral gonadal agenesis is a rare cause of hypergonadotropic hypogonadism. Combination of these two pathologic entities is sporadically reported in the literature. We present an extremely rare case of primary amenorrhea with MRKH syndrome (U5bC4V4 by ESHRE classification) and coexisting bilateral ovarian agenesis.
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