Juvenile gigantomastia with pseudo angiomatous stromal hyperplasia in a 12-year-old female: a case report.

Abstract

Juvenile gigantomastia is a rare condition showing progressive breast enlargement during puberty. Here, we report a rare case of a 12-year-old female patient who developed rapid bilateral breast hypertrophy following menarche. The patient has complex family history of consanguineous marriage and individual history of suspected Madelung's disease during her infancy. After examinations and muti-department consultation, we did bilateral mastectomy to address the severe breast enlargement, and planned to perform breast reconstruction surgery after complete sexual maturity. The histopathological investigations revealed the presence of pseudo angiomatous stromal hyperplasia (PASH). Genetic analysis was conducted to explore potential hereditary contributions to the condition. During six months of follow-up period, no new breast lumps or enlargement occurred, and the patient had no postoperative complications such as infection and hematoma.