Universität zu Köln

Liang, Lei, Mei, Libin, Shi, Yingying, Huang, Lingling, Su, Zhiying, Zeng, Yu, Gao, Haijie, He, Xuemei, Huang, Hui, Huang, Yanru, Li, Ping and Chen, Jing (2021). Turner syndrome with Xp deletions and rare endometrial abnormalities A case report. Medicine (Baltimore), 100 (46). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1536-5964

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Liang, Lei UNSPECIFIED UNSPECIFIED UNSPECIFIED Mei, Libin UNSPECIFIED UNSPECIFIED UNSPECIFIED Shi, Yingying UNSPECIFIED UNSPECIFIED UNSPECIFIED Huang, Lingling UNSPECIFIED UNSPECIFIED UNSPECIFIED Su, Zhiying UNSPECIFIED UNSPECIFIED UNSPECIFIED Zeng, Yu UNSPECIFIED UNSPECIFIED UNSPECIFIED Gao, Haijie UNSPECIFIED UNSPECIFIED UNSPECIFIED He, Xuemei UNSPECIFIED UNSPECIFIED UNSPECIFIED Huang, Hui UNSPECIFIED UNSPECIFIED UNSPECIFIED Huang, Yanru UNSPECIFIED UNSPECIFIED UNSPECIFIED Li, Ping UNSPECIFIED UNSPECIFIED UNSPECIFIED Chen, Jing UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-577580
DOI:	10.1097/MD.0000000000027571
Journal or Publication Title:	Medicine (Baltimore)
Volume:	100
Number:	46
Date:	2021
Publisher:	LIPPINCOTT WILLIAMS & WILKINS
Place of Publication:	PHILADELPHIA
ISSN:	1536-5964
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language OVARIAN; CHILDREN; PATIENT; CARE Multiple languages Medicine, General & Internal Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/57758