In:
Medicine, Ovid Technologies (Wolters Kluwer Health), Vol. 100, No. 46 ( 2021-11-19), p. e27571-
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0025-7974
,
1536-5964
DOI:
10.1097/MD.0000000000027571
Language:
English
Publisher:
Ovid Technologies (Wolters Kluwer Health)
Publication Date:
2021
detail.hit.zdb_id:
2049818-4
