A 16-year-old girl presents to the Gynaecology OPD with a complaint of not having started menstruation, a condition known as primary amenorrhea. She has a history of cyclic abdominal pain, indicating that menstruation is occurring internally, but there is an outflow obstruction. Upon examination, there's a midline abdominal swelling and a bulging mass observed in the vagina during a rectal exam. These clinical findings suggest an obstructive anomaly of the lower reproductive tract.
An imperforate hymen is the most probable diagnosis here. This condition occurs when the hymen, a thin membrane that partially covers the vaginal opening, fails to perforate during fetal development, resulting in an obstruction. When menstruation begins, the menstrual blood accumulates behind the hymen, causing cyclical abdominal pain and swelling (hematometra or hematocolpos) and can present as a vaginal bulging mass on examination.
The other conditions listed may cause primary amenorrhea, but they are less consistent with the presented symptoms:
- Transvaginal Septum: Similar to an imperforate hymen, this condition involves a membrane obstructing the vagina. However, it may not always cause cyclical abdominal pain unless uniquely positioned.
- Vaginal Agenesis: This refers to the absence of vaginal development and does not typically present with cyclic pain or swelling as menstruation cannot occur.
- MRKH Syndrome (Mayer-Rokitansky-Küster-Hauser): Characterized by absence or underdevelopment of the uterus and upper vagina, not usually presenting with cyclic pain or hematocolpos manifestation.
Considering the typical presentation with cyclical pain and vaginal bulge,
imperforate hymen is the most likely diagnosis.