A 14-year-old girl has been diagnosed with primary amenorrhea. Pelvic ultrasound reveals an absent uterus. Genetic testing confi
rms a 46,XX karyotype. Which of the following is the most likely diagnosis?a) Asherman's syndrome b) Turner's syndrome c) Imperforate hymen d) Mullerian dysgenesis
Mullerian dysgenesis is the condition where females having normal 46 XX chromosomal composition still lack normal uterine development. It is also the second most leading cause of primary amenorrhea. Primary amenorrhea is the condition where a female does not start her menstrual cycle even when she reaches puberty i.e. by the age of 16 .
Research has been going on for finding the genetic cause of Mullerian dysgenesis. So far its relationship has been established with impairment in functioning of HOXA and several Wnt genes. This condition is diagnosed by MRI or ultrasound techniques.
