• Lei Liang, Libin Mei, Yingying Shi, Lingling Huang, Zhiying Su, Yu Zeng, Haijie Gao, Xuemei He, Hui Huang, Yanru Huang, Ping Li, and Jing Chen.
• Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, China.
• Medicine (Baltimore). 2021 Nov 19; 100 (46): e27571e27571.

RationaleTurner syndrome (TS) is a genetic disorder associated with abnormalities of the X chromosome related to ovarian function, but whether it is associated with endometrial abnormalities is still not clear.Patient ConcernsWe report the case of a 26-year-old Han Chinese woman with TS and Xp11.2 deletion, presenting with short final stature, ovarian hypofunction, unexplained cystic dilatation of the entire endometrium, and endometrial thickening.DiagnosesThe patient was diagnosed with chromosome Xp11.2 deletion through cytogenetic analysis and ultrasonic and endometrial pathology.InterventionsThe patient was treated with conventional in vitro fertilization preimplantation genetic testing for 1 cycle.OutcomesCytogenetic examination showed karyotype 45, X, del (X) del (p11, 2). Ultrasonic examination showed uneven endometrium thickness and a full-stage cystic dilation echo. After 1 cycle of in vitro fertilization treatment, 4 eggs were obtained without forming an available embryo.LessonsTo our knowledge, the present case is the first report of a patient with TS with Xp deletions and ultrasound imaging endometrial abnormalities. Our findings expand the phenotypic spectrum of TS and may provide a reference for other clinicians.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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