This 17-year-old female has never had a menstrual period; therefore, she has primary amenorrhea. She has normal Tanner stage IV breast development, as well as normal axillary and pubic hair. Breast development connotes the presence of estrogen, and axillary and pubic hair suggests the presence of androgens. She also has a history of only one kidney. The most likely diagnosis is miillerian agenesis, as a significant fraction of these patients have a urinary tract abnormality. Also, with androgen insensitivity, there typically is scant axillary and pubic hair because of a defective androgen receptor. The diagnosis can be confirmed with a serum testosterone level, which would be normal in miillerian agenesis and elevated (in the normal male range) in androgen insensitivity. A karyotype would also help to distinguish the two conditions. Notably, absence of breast development would point to a hypoestrogenic state such as gonadal dysgenesis (Turner's syndrome).
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