摘要
Abstract
Objective Objective To investigate the clinical characteristics,diagnostic approach, differential diagnosis method of monozygotic twins with Turner syndrome(TS),cause of misdiagnosis and preventive measures. Methods Clinical data of monozygotic twins with TS was retrospectively analyzed, and related literature was re-viewed. Results A 13-year-old female was admitted to our hospital with growth retardation for 13 years.The patient was one of monozygotic twins with short stature,no menstruation and no secondary sexual characteristics.She was 130 cm in height and 35kg in weight,with Tanner stage I breast development,Tanner stage I pubic hair development and female infantile type of vulva.After admission, examinations revealed significantly increased follicle-stimulating hor-mone (FSH) and luteinizing hormone,and decreased E2.Growth hormone stimulation tests revealed normal GH.Her bone age was calculated to be 13 years old. Transrectal ultrasound revealed suspected primordial uterus and flaky o-vary. Tests revealed the karyotype of peripheral blood 46,X0. Her younger monozygotic twin sister had developed normally,with normal height (146 cm) and menstruation,with the karyotype of peripheral blood 46,XX. Monozy-gotic twin sisters had the same blood type. The definitive diagnosis was monozygotic twins with Turner syndrome.Af-ter treatment with recombinant human growth factor,her height increased by 3cm in the first year and 2cm in the sec-ond year. One year after recombinant human growth factor treatment,the patient was treated with additional estradiol valerate. In one year,there was no menstruation,or development of genitalia and breast. Further observation is nee-ded in follow-up treatment. Conclusion TS,a rare disease in clinical settings,has diverse clinical manifestations. Therefore,insight into clinical features of the disease,comprehensive analysis of the condition,and timely endocrine hormone test and chromosome examination may help to avoid misdiagnosis.关键词
Turner综合征/双生；单卵/误诊/发育障碍Key words
Turner syndrome/Twins/monozygotic,Misdiagnosis/Developmental disabilities分类
医药卫生
