A 19-year-old patient presents to your office with primary amenorrhea. She has normal breast and pubic hair development, but the uterus and vagina are absent. Diagnostic possibility includes:

Ans. is 'c' i.e., Mullerian agenesis * Since this patient has other signs of pubertal development that are sex steroid- dependent, we can conclude that some ovarian function is present. This excludes conditions such as gonadal dysgenesis and hypothalamic pituitary failure as possible causes of her primary amenorrhea. Mullerian defects are the only plausible cause, and the diagnostic evaluation in this patient would be directed toward both confirmation of this diagnosis and establishment of the exact nature of the Mullerian defect. Mullerian agenesis, also known as Mayer-Rokitansky- Kuster-Hauser syndrome, presents as amenorrhea with absence of a vagina. The incidence is approximately 1 in 10,000 female births. The karyotype is 46 XX. There is normal development of breasts, sexual hair, ovaries, and external genitalia. There are associated urinary tract (33%) and skeletal (12%) anomalies.* Testicular feminization, or congenital androgen insensitivity syndrome, is an X-linked recessive disorder with a karyotype of 46 X Y. The patient presents with an absent uterus and blind vaginal canal. However, in these patients the amount of sexual hair is significantly decreased/absent.* Patients with gonadal dysgenesis present with lack of secondary sexual characteristics. Patients with Klinefelter syndrome typically have a karyotype of 47 XXY and a male phenotype.Note: In patients of Mullerian agenesis (RMKH syndrome) ovary is present and it functions normally