A case of breast tumor in a male with complete androgen insensitivity.

Introduction: Androgen insensitivity (testicularfeminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal woman with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair. These patients have male karyotype (XY) and negative sex chromatin. The gonad (undescended testes) may be intra-abdominal, inguinal, or labial. The probable explanation of the syndrome is the absence of the cytosolic androgen binding protein receptor that is normally present in the androgen responsive tissue. Case Report: A 17-year-old female presented with chief complaints of not attaining menarche and swelling in left breast. She was operated outside for this swelling. Physical examination revealed normal breast development, normal external gelia, sparse pubic hair, absent axillary hair, and bilateral inguinal masses. Ultrasonography (USG nita) of the abdomen showed absent uterus and ovaries in the pelvis. Subsequent cytogenetic analysis confirmed 46 XY karyotype. Review of the histopathological examination of the excised breast tissue was suggestive of multiple papilloma with hyperplasia of unusual type and immunohistochemistry markers positive for ck-5, p63, and actin. Conclusion: Cancer of breast is rare in males, but the risk is increased in those with androgen hypoinsensitivity caused by longer glutamine repeats in the androgen receptor (AR) seen with partial androgen insensitivity syndromes (PAIS) or mild androgen insensitivity syndromes (MAIS). Breast cancer has not been reported in complete androgen insensitivity syndromes (CAIS). The above case report illustrates a rare presentation of breast papilloma with hyperplasia of unusual type in a male with complete androgen insensitivity syndrome. [ABSTRACT FROM AUTHOR]