A 19 year old patient presents with primary amenorrhoea. She has well developed breasts and axillary and pubic hair. Uterus and vagina are absent. The diagnosis is most likely:
Mullerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) is the second most common cause of primary amenorrhea. Clinical features: Normal ovarian development Normal endocrine function Normal female sexual development Shoened or absent vagina in addition to absence of the uterus Individuals have 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 syndrome
Gonadal dysgenesis
Mullerian agenesis
Klinefelter's syndrome
Mullerian agenesis