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Gynaecology & Obstetrics Intersex 10fb2660

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:

A
Androgen insensitivity syndrome
B
Turner syndrome
C
Mullerian agenesis
D
Klinefelters Syndrome
High-Yield Explanation
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

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