Familial Occurrence of Imperforate Hymen

Imperforate hymen is uncommon, occurring in 0.1 % of newborn females. Non-syndromic familial occurrence of imperforate hymen is extremely rare and has been reported only three times in the English literature. The authors describe two cases in a family across two generations, one presenting with chronic cyclical abdominal pain and the other acutely. There were no other significant reproductive or systemic abnormalities in either case. Imperforate hymen occurs mostly in a sporadic manner, although rare familial cases do occur. Both the recessive and the dominant modes of transmission have been suggested. However, no genetic markers or mutations have been proven as etiological factors. Evaluating all female relatives of the affected patients at an early age can lead to early diagnosis and treatment in an asymptomatic case.