Suryawan Alfonsus Zeus, Tjahyadi Dian, Hermawan Martin, Aprialdi Doni
Department of Obstetrics and Gynecology; Universitas Padjadjaran, Bandung, Indonesia.
Int J Womens Health. 2024 Apr 16;16:629-635. doi: 10.2147/IJWH.S462375. eCollection 2024.
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.
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).
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.
The present report illustrates a rare case of EST occurred in a TS patient with 46XX mosaicism.
特纳综合征(TS)与生殖细胞恶性肿瘤的相关性在具有Y染色体物质的TS患者中得到认可,但其他情况并非如此。本病例报告旨在强调核型为46XX嵌合体的TS患者发生卵黄囊瘤的情况。
一名23岁未孕女性因腹部肿块和阴道出血入院。她原发性闭经,已被诊断为TS。她的核型为46XX,伴有5%的X嵌合体。根据国际卵巢肿瘤分析(IOTA)简单规则,超声检查显示一个大小为14.05×10.99厘米的实性肿块,M1和M2。手术中,发现一个起源于她左侧卵巢、大小为20×15×15厘米、与大网膜、回肠和盲肠粘连的实性肿块。病理检查显示为内胚窦瘤(EST)。
伴有Y细胞的TS与生殖细胞恶性肿瘤密切相关,但其他情况并非如此。此类病例中恶性肿瘤的病因仍不清楚。
本报告阐述了一例罕见的EST病例,发生在核型为46XX嵌合体的TS患者中。