RÉSUMÉ
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a genetic disease consisting of absent uterus and upper part of vagina, and is seen in women with a normal karyotype (46, XX). It is one of the rare diseases where the estimated prevalence is 1:5000. Most patients present with primary amenorrhea at a young age, with or without bone or kidney abnormalities. The associated psychological aspects of this disease often enforce the need for a prompt diagnosis and treatment. The preferred method for preoperative evaluation of these patients is magnetic resonance imaging (MRI).
RÉSUMÉ
Androgen insensitivity syndrome is a rare disorder of sex development that results from genetic mutations affecting the androgen receptor. Recently, we encountered a case of a 13-year-old individual who had been raised as female and sought medical attention for primary amenorrhea, which led to the discovery of partial androgen insensitivity syndrome. Early detection and gonad removal are necessary to mitigate the risk of cancer. Additional management steps such as corrective surgery and psychological support can also be valuable.