Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder characterised by absence of uterus and vagina. Ovaries and fallopian tubes are normal and functional. Its incidence is 1 in 4500-5000 female. Patients present with primary amenorrhea with normal external genitalia and development of secondary sexual characteristics, and 46XX karyotype. It is usually diagnosed by MRI, CT or transabdominal USG, with MRI being the gold standard.
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Chandekar et al. (2024) studied this question.
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