Adenocarcinoma of the rectum in a 13-year-old girl with Turner syndrome.

摘要

We describe a 13-year-old girl with short stature and delayed puberty who presented with hematochezia and recurrent abdominal pain for 1 year, and progressive weight loss for 6 months. Per rectal examination was suggestive of a rectal mass. Histopathologic evaluation of the proctoscopy-guided biopsy specimen showed rectal adenocarcinoma. Computerized tomography of the abdomen showed hepatic metastases, which was confirmed by fine-needle aspiration cytology of the liver. She also had perirectal, aortocaval, para-aotic, mesenteric, and gastrohepatic ligament lymph node enlargement. GTG-banded chromosomal analysis showed a karyotype of 45, X, confirming Turner syndrome. A brief review of the neoplasms described in literature in association with Turner syndrome, and the possible pathogenetic mechanisms are discussed.