A 19 year old patient came to the out patient depament with complaints of primary amenorrhea. She had well developed breast and pubic hair. However there was absence of vagina and uterus. Likely diagnosis is:
Mullerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) is the second most common cause of primary amenorrhea. These individuals have normal ovarian development, normal endocrine function, and normal female sexual development. The physical findings are a shoened or absent vagina in addition to absence of the uterus, although small masses resembling a rudimentary uterus may be noted. These individuals have a 46,XX karyotype. Ref: Rosen M.P., Cedars M.I. (2011). Chapter 13. Female Reproductive Endocrinology and Infeility. In D.G. Gardner, D. Shoback (Eds), Greenspan's Basic & Clinical Endocrinology, 9e.
XYY
Mullerian agenesis
Gonadal dysgenesis
Klinefelter's syndrome