同卵双胎Turner综合征临床报告并文献复习

摘要

目的 探讨同卵双胎Turner综合征(turner syndrome, TS)的临床特点、诊断及鉴别诊断方法、误诊原因及防范措施.方法 回顾分析1例同卵双胎TS的临床资料,并复习相关文献.结果 本例为13岁女性,因生长发育迟缓13年入院.患儿系同卵双胞胎,身材矮小,无月经,无第二性征发育.身高130 cm,体重35 kg,乳房Tanner分期I期,阴毛Tanner分期I期,外阴女性幼稚型.入院后查卵泡刺激素、黄体生成素明显升高,雌二醇下降.生长激素刺激试验提示生长激素正常.骨龄13岁.直肠超声检查可疑痕迹子宫、片状卵巢.外周血染色体核型为45,X0.同卵双胎妹妹发育正常,身高146 cm,月经正常,外周血染色体核型为46,XX.双胞胎姐妹血型相同.明确诊断为同卵双胎TS.予重组人生长因子治疗第1年身高增加3 cm,治疗第2年身高增加2 cm.重组人生长因子治疗1年后加用戊酸雌二醇治疗1年,仍无月经及外生殖器、乳房发育,后续治疗有待进一步观察.结论 TS临床少见且表现多样,易误诊.掌握该病临床特点,综合分析病情,及时行内分泌及外周血染色体核型等检查,有助于避免TS误漏诊.%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.