Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer–Rokitansky–Kuster–Hauser Syndromes

Abstract Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome and 18p deletion syndrome, two genetic disorders having distinct genetic etiologies, have an exceedingly rare likelihood of coexistence. Vaginal agenesis or MRKH syndrome, the developmental failure of Mullerian ductal system-derived structures in a genotypic female fetus (46, XX), leads to congenital absence of uterus and vagina in variable degree. The 18p deletion syndrome is a rare chromosomal disorder, characterized by dysmorphic features, stunted growth, and mental retardation, which is caused by deletion of a part or all of the short arm of chromosome 18. A detailed evaluation of primary amenorrhea in a 16-year-old girl yielded both MRKH syndrome and 18p deletion syndrome. Extensive literature search could not identify any reported case bearing this combination of syndromes. This case presentation and review emphasizes on the importance of karyotyping in MRKH patients having atypical features.