Background: The hormonal management of patients with androgen insensitivity can be challenging. Case: An illustrative case is presented of a newborn with ambiguous genitalia who was raised female. She was diagnosed as 46,XY Disorder of Sexual Development with partial androgen insensitivity. To induce puberty, conjugated equine estrogens were administered beginning at age 12. At age 13, she instead began taking combined oral contraceptives for maternal concerns about height and continued taking them for social reasons. Invasive ductal carcinoma was diagnosed at age 27, and the patient was treated with chemotherapy, radiation therapy, bilateral mastectomies, and endocrine therapy. Summary and Conclusion: The current literature is reviewed, and hormonal management and other risks for breast cancer are discussed.
- 46,XY disorders of sexual development
- Androgen insensitivity syndrome
- Breast Neoplasms