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:
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
Androgen insensitivity syndrome
Turner syndrome
Mullerian agenesis
Klinefelters Syndrome
Intersex