A 16-year-old girl with primary amenorrhea comes to OPD with bilateral inguinal swelling. She has normal breast development with no pubic hair. USG shows absent uterus. The diagnosis is:
Androgen insensitivity syndrome
Turner syndrome
Mullerian agenesis
Klinefelters Syndrome
Testicular feminization syndrome (androgen insensitivity syndrome): XY karyotype with a female phenotype androgens are present but do not act at a peripheral level due to a receptor defect. the embryological development, which is dependent on androgens in a male fetus, does not happen and hence by default a female form is made. breast development is seen due to peripheral conversion of androgens to estrogens The inguinal swellings described in the question are actually the testes
Intersex