Yolk Sac Tumor of the Ovary in Mosaic 46XX Turner Syndrome

嵌合型 46XX 特纳综合征卵巢卵黄囊瘤

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Abstract

INTRODUCTION: Correlation of Turner syndrome (TS) with germ cell malignancy is acknowledge in TS patient with Y chromosome material but not otherwise. This case report wishes to highlight yolk sac tumor occurrence in patients with TS 46XX karyotype mosaicism. CASE REPORT: A 23-year-old nulligravid woman was admitted with abdominal mass and vaginal bleeding. She had primary amenorrhea and had already been diagnosed with TS. Her karyotype was 46XX with 5% X mosaicism. Ultrasonography revealed a solid mass measuring 14.05 x 10.99 cm based on the International Ovarian Tumor Analysis (IOTA) simple rule, M1 and M2. During surgery, a solid mass originates from her left ovary measuring 20 x 15 x 15 cm with adhesion to omentum, ileum, and caecum was found. Pathology examination reveals it's an endodermal sinus tumors (EST). DISCUSSION: TS with Y cells are closely linked with germ cell malignancy but not otherwise. It's still unclear what causes the malignancy in such cases. CONCLUSION: The present report illustrates a rare case of EST occurred in a TS patient with 46XX mosaicism.

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