Mayer-Rokitansky-Küster-Hauser syndrome (atypical)
Citation, DOI and case data
Primary amenorrhea. On examination, the phenotype was female with normal secondary sexual characteristics.
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Both kidneys are fused and visualized in the pelvic cavity, the uterus is not visualized. Both ovaries are present and situated in the respective iliac fossae (see annotation).
There is a simple mesenteric cyst noted in the left iliac fossa.
Agenesis of uterus with renal anomalies is the atypical and rare form of MRKH syndrome. In other forms of atypical MRKH syndrome, there can be agenesis of ovaries and fallopian tubes. In this case the ovaries are present and functioning as the secondary sexual characters of the patient are normally developed.
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