A 16-year-old girl presents with primary amenorrhea. She has well developed breast, public hair and axillary hair. Examination shows absent vagina and an USG uterus is absent. What is the most likely diagnosis?
Ans. is c, i.e. Mullerian agenesis.The female in the question has-Primary amenorrhea+Normal secondary sexual characteristic (Rules out Turners syndrome)+Well-developed axillary and pubic hair (Rules out Androgen Insensitivity Syndrome)+Absent uterus (Rules out congenital adrenal hyperplasia).Hence, patient is a clear-cut case of mullerian agenesis.
Androgen insensitivity syndrome
Congenital adrenal hyperplasia
Mullerian agenesis
Turner syndrome
Malformation of the Female Generative Organs