Mayer-Rokitansky-Kuster-Hauser syndrome with gonadal dysgenesis
Diagnosis almost certain
Presentation
Primary amenorrhea and impuberism.
Patient Data
Age: 15 years
Gender: Female
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Uterus, cervix, and upper part of the vagina are unidentified (agenesis) as well as both ovaries.
There is no associated renal anomalies.
Case Discussion
The association of Mayer-Rokitansky-Kuster-Hauser syndrome (a.k.a müllerian aplasia ) and gonadal dysgenesis is an extremely rare condition and seems to be incidental, independent of chromosomal anomalies.