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.
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Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study).
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Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated.
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Department of Orthopedic Surgery, University of Wisconsin - Madison, Madison, Wisconsin, U.S.A.
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J Clin Endocrinol Metab
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Endocr Connect
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Proc Biol Sci
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