What is A 17 year old female presented with primary amenorrhea, well developed breast and scanty axillary and pubic hair. ultrasonography of the patient shows absence of the uterus and vagina. Genotype of the patient is most likely to be: and explain in detail?
Patient has Testicular-feminizing syndrome. It is most common form of male intersex. Genotype is 46 XY There are functional testes which secrete androgens but since there is androgen insensitivity, external feminisation occurs In this external genitalia appears female breast are well developed, clitoris is normal in size axillary and pubic hair are scanty, due to insensitivity to androgen NOTE: the answer could also have been MRKH with XX normal karyotype, however, scanty pubic hair points more towards androgen insensitivity, in MRKH breast development, axillary and pubic hair are normal