Open AccessTurner syndrome with Xp deletions and rare endometrial abnormalities
Author(s) -
Liang Liu,
Libin Mei,
Yingying Shi,
Lingling Huang,
Zhiying Su,
Yu Zeng,
Haijie Gao,
Xuemei He,
Hui Huang,
Yanru Huang,
Ping Li,
Jing Chen
Publication year - 2021
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000027571
Subject(s) - medicine , endometrium , turner syndrome , short stature , karyotype , gynecology , in vitro fertilisation , x chromosome , chromosome , embryo , genetics , biology , gene
Rationale: Turner 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 concerns: We 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. Diagnoses: The patient was diagnosed with chromosome Xp11.2 deletion through cytogenetic analysis and ultrasonic and endometrial pathology. Interventions: The patient was treated with conventional in vitro fertilization preimplantation genetic testing for 1 cycle. Outcomes: Cytogenetic 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. Lessons: To 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.