title: Adenocarcinoma of the rectum in a 13-year-old girl with Turner syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India. drsriramk@yahoo.com
authors.forename: Sriram
authors.initials: S
authors.lastname: Krishnamurthy
authors.forename: Nilay
authors.initials: N
authors.lastname: Nirupam
authors.forename: Anju
authors.initials: A
authors.lastname: Seth
authors.forename: Anil K
authors.initials: AK
authors.lastname: Agarwal
authors.forename: Praveen
authors.initials: P
authors.lastname: Kumar
authors.forename: Satinder
authors.initials: S
authors.lastname: Aneja
mesh_terms: D015746:Abdominal Pain / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology; D000230:Adenocarcinoma / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D000293:Adolescent; D001706:Biopsy; D005260:Female; D006801:Humans; D012004:Rectal Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014424:Turner Syndrome / Q000150:complications*