A 17 year old patient came to the outpatient department with complaints of Primary Amenorrhea. She had well develop breast and public hair. However there was absence of vagina and uterus. Likely diagonis is (AIIMS Nov. 2012)
|A||Androgen insensitivity syndrome|
a. Müllerian agenesis is a congenital malformation in women characterised by a failure of the Müllerian ducts to develop, resulting in absent uterus and variable malformations of the vagina.
b. It is the second most common cause of primary amenorrhea.
c. The condition is also called MRKH or Mayer-Rokitansky-Küster-Hauser Syndrome
d. A woman with this condition is hormonally normal, that is she will enter puberty with development of secondary sexual characteristics including thelarche and adrenarche. Her chromosome constellation will be 46, XX. Ovulation usually occurs.
a. Option a: there is absent uterus but also absence of axillary & pubic hair
b. Option c: also called turners syndrome is the most common cause of primary amenorrhea.