比较单体型特纳综合征与正常儿童全脑白质各向异性

目的 采用DTI观察特纳综合征（TS）患者脑白质异常,探讨TS白质异常与认知功能障碍的关系。方法 选择基因型为45,XO单体型TS的患者14例为TS组,另招募20名年龄为10~18岁的女性志愿者为对照组,进行韦氏智力检验。采用Siemens 3.0 T磁共振扫描仪及8通道头线圈,对两组行DTI扫描,并经后处理生成FA图,然后进行TS组和对照组的基于体素的FA比较。结果 TS组知觉推理智商值为84.4±15.1,低于对照组（103.4±13.4;t=3.8,P<0.05）;在言语理解方面智商值为100.7±20.3,低于对照组（117.2±14.1;t=2.8,P<0.05）;在加工速度方面智商值为83.6±12.1,低于对照组（103.8±16.1;t=4.0,P<0.05）;在工作记忆方面智商值为87.2±16.9,低于对照组（101.7±15.7;t=2.6,P<0.05）。PS组左侧额叶白质、右侧顶叶白质、胼胝体压部、双侧内囊、双侧大脑脚和双侧小脑FA值显著低于对照组。结论 TS患者左侧额叶纹状体通路、右侧上纵束通路及胼胝体圧部FA值减低可能与视觉空间感觉及相关执行能力减低有关;双侧内囊、大脑脚和小脑局部FA值减低可能与运动异常有关。     

基因重组人生长激素和雌/孕激素治疗Turner综合征患儿疗效观察

目的 探讨基因重组人生长激素(recombinant human growth hormone,rhGH)及雌/孕激素(estrogen/progestogem,E/P)治疗对Turner综合征(Turner syndrome,TS)患儿身高及性征发育的影响.方法 2005年1月-2009年6月四川大学华西第二医院门诊...     

Prenatal diagnosis of Turner syndrome: report on 69 cases.

OBJECTIVE: This study was conducted to evaluate the diagnostic value of different sonographic signs of fetuses with Turner syndrome in the first and second trimesters of pregnancy. METHODS: Between 1990 and 2004, Turner syndrome was found in 69 of 22,150 fetal karyotypings. Congenital anomalies detected by sonography were analyzed. RESULTS: Of the 514 (2.3%; 514/22,150) chromosome aberrations that were diagnosed, 69 Turner syndrome cases were found (13.4%; 69/514). Twenty-four fetuses had a 45,X karyotype (34.8%), and 45 fetuses were mosaic (65.2%). Forty-seven fetuses (68.1%; 47/69) showed symptoms on sonography. A substantial proportion of fetuses with Turner syndrome showed early-onset signs that could be detected in the first trimester (29.8%;14/69). The most common findings with sonography were hygroma colli (26.1%; 18/69), fetal hydrops (11.6%; 8/69), cardiac defects (13%; 9/69), and increased nuchal translucency (13%; 9/69). Among heart defects, coarctation of the aorta was the most common (44.4% of all cardial defects). Soft markers were also detected with relatively high frequency (23.2%; 16/69). CONCLUSIONS: The diagnosis of severe Turner syndrome is possible in early pregnancy. A search for soft markers during second-trimester sonography and extensive use of echocardiography may increase the detection rate of Turner syndrome.     

Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports

BACKGROUNDTurner syndrome (TS) has a variety of different karyotypes, with a wide range of phenotypic features, but the specific karyotype may not always predict the phenotype. TS with Y chromosome mosaicism may have mixed gonadal dysgenesis, and the mosaicism is related to the potential for gonadoblastoma.CASE SUMMARYIn this case report, we report two cases of TS with different karyotypes and gonadal dysgenesis. Patient 1 had obvious virilization, and was positive for the SRY gene, but her karyotype in peripheral blood lymphocytes was 45X. Patient 2 had a mosaic karyotype, 45X/46X, dic (Y:Y) (p11.3:p11.2), and the proportion of Y-bearing cells was 50% in peripheral blood lymphocytes, but the patient had normal female external genitalia and streaky gonads, with no genital virilism. Different tissues in the same TS individual may exhibit different ratios of mosaicism. The gonadal determination and differentiation of mosaic TS are primarily dependent on the predominant cell line in the gonads. CONCLUSIONIn TS patients with virilization, it is necessary to test at least two to three tissues to search for cryptic Y material.     

Atrial and ventricular arryhthmogenic potential in Turner Syndrome

Background: P-wave dispersion (Pd), corrected P-wave dispersion (Pdc), QT-wave dispersion (QTd), and corrected QT-wave dispersion (QTdc) parameters were not assessed in Turner Syndrome (TS) before. The aim of this study is to investigate the cardiac arrhythmogenic potential in patients with TS.
Methods: Thirty-one patients with TS and 30 healthy women were enrolled in the study. For this purpose 12-lead electrocardiogram (ECG) and 24-hour ambulatory ECG recordings were performed.
Results: Pd, Pdc, QTd, and QTdc were significantly higher in patients with TS. On 24-hour ambulatory ECG recording, the mean heart rate (HR) was higher, while the mean of all RR intervals between normal beats (MeanNN), the standard deviation of all the RR intervals (SDNN), the square root of the mean of the squared differences of two consecutive RR intervals (rMSSD), and the percentage of the beats with consecutive RR interval difference more than 50 milliseconds (pNN50) were lower in TS.
Conclusion: There were significant increases in Pd, Pdc, QTd, and QTdc in patients with TS and they may be features of the disease. The frequency of supraventricular arrhythmias was increased. There also was a significant deterioration of sympathetic and parasympathetic components of autonomic function as assessed by heart rate variability (HRV) in Turner patients.     

Usefulness of abdominal ultrasonography with studies of the intestinal loops in Turner syndrome patients

Turner syndrome, a chromosomal disorder caused by partial or complete absence of one of the two X chromosomes, is characterized by an increased incidence (compared with that in the normal population) of either autoimmune disorders, including chronic inflammatory bowel diseases, or angiodysplasia of the small intestine. Because ultrasonography and color Doppler ultrasound are widely used to investigate gastrointestinal disorders, we decided to carry out an ultrasound-based screening study in patients with Turner syndrome to determine whether this method might be useful in the follow-up of this population.     

超声诊断18周胎儿开放性脊柱裂合并钩状手畸形合并特纳综合征1例

孕妇32岁,孕18周.超声检查:羊水过多,胎儿双顶径切面可见小脑缺失,一侧脑室扩张,宽度约1.2 cm,其颈背部可见1.8 cm× 2.0 cm多房囊性肿物,内有明显分隔光带,囊内除分隔光带外呈无回声区,内部透声尚可.沿胎儿脊柱的背面纵向扫查,脊柱的两条平行强回声条带明显后凸、弯曲形成角度,于腹部横切面可见腹壁缺损处向前突出的囊性膨出物,     

Turner syndrome with primary myelofibrosis,cirrhosis and ovarian cystic mass: A case report

BACKGROUNDTurner syndrome (TS) with leukemia is a complicated clinical condition. The clinical course and outcome of these patients are poor, so the treatment and prognosis of TS with hematological malignancies deserve our attention. CASE SUMMARYHere, we report a case of a 20-year-old woman diagnosed with TS, primary myelofibrosis (PMF), cirrhosis, and an ovarian cystic mass. This is the first report on the coexistence of TS and PMF with the MPL and SH2B3 mutations. The patient was diagnosed with cirrhosis of unknown cause, splenomegaly and severe gastroesophageal varices. Additionally, an ovarian cystic mass caused the patient to appear pregnant. The patient was treated with the JAK2 inhibitor-ruxolitinib according to peripheral blood cells, although myelofibrosis was improved, the splenomegaly did not reduce. Moreover, hematemesis and melena occasionally occurred. CONCLUSIONRuxolitinib may clearly reduce splenomegaly. Though myelofibrosis was improved, cirrhosis and splenomegaly in this case continued to worsen. Effective treatment should be discussed.     

Turner综合征的核型与临床表现

目的探讨Turner综合征（Ts）的各类核型及临床表现。方法对34例Ts患儿进行染色体核型分析,并检测甲状腺激素、性激素和促性腺激素,其中15例行生长激素药物激发试验;同时进行临床特征分析,生长发育指标评价,子宫、卵巢彩超影像学等检查。结果染色体核型各异,典型染色体核型为45,X0,亦可呈各种嵌合型,患儿表现为身材矮小和躯体畸形。彩超检查2例无子宫和卵巢声像,余32例子宫、卵巢提示发育不良。34例患儿血清雌二醇水平显著降低、促性腺激素水平显著升高,2例生长激素缺乏,3例甲状腺功能低下。结论Ts患儿的临床表现与染色体核型有关。X染色体异常可致患儿卵巢发育不全和性激素水平异常。     

Turner syndrome with positive SRY gene and non-classical congenital adrenal hyperplasia: A case report

BACKGROUNDCo-morbidity of SRY gene turner syndrome (TS) with positive SRY gene and non-classical congenital adrenal hyperplasia (NCAH) is extremely rare and has never been reported to date.CASE SUMMARYIn this article, we present a 14-year-old girl who was referred to our hospital with short stature (weight of 43 kg and height of 143 cm, < -2 SD) with no secondary sexual characteristics (labia minora dysplasia). Laboratory tests indicated hypergonadotropic hypogonadism with significantly increased androstenedione and 17-hydroxyprogesterone (17-OHP) levels. This was accompanied by the thickening of the extremity of the left adrenal medial limb. The patient’s karyotype was 45,X/46,X, +mar, and cytogenetic analysis using multiplex ligation-dependent probe amplification and high-throughput sequencing indicated that the SRY gene was positive with compound heterozygous mutations in CYP21A2 as the causative gene for congenital adrenal hyperplasia. The sites of the suspected candidate mutations were amplified and verified using Sanger sequencing. The patient was finally diagnosed as having SRY positive TS with NCAH. The patient and her family initially refused medical treatment. At her most recent follow-up visit (age = 15 years old), the patient presented facial hair, height increase to 148 cm, and weight of 52 kg, while androstenedione and 17-OHP levels remained high. The patient was finally willing to take small doses of hydrocortisone (10 mg/d).CONCLUSIONIn conclusion, upon evaluation of the patient mentioned in the report, we feel that 17-OHP measurement and cytogenetic analysis are necessary for TS patients even in the absence of significant virilization signs. This will play a significant role in guiding diagnosis and treatment.     

Early detection (9+6 weeks) of cardiac failure in a fetus diagnosed as Turner syndrome by 2D transvaginal ultrasound‐guided coelocentesis

A 28‐year‐old woman was diagnosed by transvaginal ultrasound at 9+6 weeks with early fetal cardiac failure (hydrothorax and bradycardia). Doppler analysis of ductus venosus showed a negative A‐wave pattern. The follow‐up sonogram obtained at 11+6 weeks documented a missed abortion. A transvaginal ultrasound‐guided coelocentesis was performed under local cervical anesthesia before uterine suction and 8 mL of clear extracoelomic fluid were successfully aspirated. Cytogenetic analysis demonstrated a 45,X karyotype. Ultrasound and Doppler waveform analysis of ductus venosus allowed early diagnosis of fetal cardiac failure. Coelocentesis may be the method of choice for early fetal karyotyping and may be used in the future to induce immunologic tolerance. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2009.     

Prediction of aortic dilation in Turner syndrome - enhancing the use of serial cardiovascular magnetic resonance

Background

Identification of the subset females with Turner syndrome who face especially high risk of aortic dissection is difficult, and more optimal risk assessment is pivotal in order to improve outcomes. This study aimed to provide comprehensive, dynamic mathematical models of aortic disease in Turner syndrome by use of cardiovascular magnetic resonance (CMR).

Methods

A prospective framework of long-term aortic follow-up was used, which comprised diameters of the thoracic aorta prospectively assessed at nine positions by CMR at the three points in time (baseline [n = 102, age 38 ± 11 years], follow-up [after 2.4 ± 0.4 years, n = 80] and end-of-study [after 4.8 ± 0.5 years, n = 78]). Mathematical models were created that cohesively integrated all measurements at all positions, from all visits and for all participants, and using these models cohesive risk factor analyses were conducted based on which predictive modeling was performed on which predictive modelling was performed.

Results

The cohesive models showed that the variables with effect on aortic diameter were aortic coarctation (P < 0.0001), bicuspid aortic valves (P < 0.0001), age (P < 0.0001), diastolic blood pressure (P = 0.0008), body surface area (P = 0.015) and antihypertensive treatment (P = 0.005). Oestrogen replacement therapy had an effect of borderline significance (P = 0.08). From these data, mathematical models were created that enabled preemption of aortic dilation from CMR derived aortic diameters in scenarios both with and without known risk factors. The fit of the models to the actual data was good.

Conclusion

The presented cohesive model for prediction of aortic diameter in Turner syndrome could help identifying females with rapid growth of aortic diameter, and may enhance clinical decision-making based on serial CMR.     

呼吸窘迫综合征早产儿宫外发育迟缓的危险因素分析

目的探讨新生儿呼吸窘迫综合征(RDS)早产儿宫外发育迟缓(EUGR)相关危险因素,以探讨预防对策。方法收集2011年1月1日至2012年10月31日新生儿重症监护室的60例适于胎龄儿的RDS早产儿的临床资料,根据出院时体质量与矫正胎龄的关系,分为EUGR组与非EUGR组,应用SPSS 17.0软件进行数据分析,比较两组基本情况、围产期因素、营养摄入情况、治疗措施及并发症方面的差异;并对相关因素进行Logistic回归分析,筛选出RDS早产儿宫外发育迟缓的高危因素。结果适于胎龄的RDS早产儿宫外发育迟缓发生率为56.67%(34/60)。EUGR组与非EUGR组出生体质量、最小体质量、多胎妊娠、分娩方式差异有统计学意义(P<0.05),在胎龄、营养摄入情况、治疗措施及并发症方面差异无统计学意义(P>0.05)。Logistic回归分析:恢复出生体质量时间、多胎妊娠为危险因素,产前激素应用为保护性因素。结论适于胎龄的RDS早产儿EUGR与多胎妊娠、剖宫产、出生体质量低、最小体质量有关,恢复出生体质量时间及多胎妊娠为EUGR危险因素。     

肾病综合征患者尿TGFβ1检测的临床意义

目的　了解肾病综合征患者尿TGFβ1水平并评价其临床意义。方法　以 2 4例健康人为对照 ,对 4 3例接受激素标准疗程治疗的肾病综合征患者治疗前后尿的TGFβ1水平 ,用ELISA法检测。结果　 14例系膜增生性肾炎(MsPGN)和 7例局灶、节段性肾小球硬化 (FSGS)尿TGFβ1增高 (32 4 .4± 14 8.3vs 2 78.3± 12 3.6pg/ml,P <0 .0 1;5 2 5 .5±136 .4vs 2 78.3± 12 3.6pg/ml,P <0 .0 5 ) ,以FSGS增高最为明显。 14例MsPGN尿TGFβ1水平与 2 4h尿蛋白排泄量呈正相关 (r =0 .5 16 ,P <0 .0 5 ) ,7例FSGS尿TGFβ1水平与 2 4h尿蛋白排泄量、血清肌酐呈正相关 (r =0 .5 16 ,P <0 .0 5 ;r =0 .6 6 7,P <0 .0 5 )。 8例微小病变肾病 (MCD)、11例膜型肾病 (MD)和 3例膜增生性肾炎 (MPGN)尿TGFβ1水平与健康对照无明显差异 (P >0 .0 5 )。 2 9例激素敏感型的患者治疗后尿TGFβ1水平明显下调 (42 4 .0± 182 .4vs 2 79.6± 14 2 .6pg/ml,P <0 .0 1) ,15例激素抵抗型的患者治疗后尿TGFβ1水平无明显变化 (P >0 .0 5 )。但加用环磷酰胺冲击治疗病情缓解后 11例病情缓解 ,尿TGFβ1水平明显下调 (436 .3± 14 5 .9vs 2 89.3± 131.1pg/ml,P <0 .0 1)。结论　尿TGFβ1水平变化可作为反映肾病综合征病情、判断病理类型及评价激素治     

Pelvic ultrasound evaluation in patients with Turner syndrome during treatment with growth hormone.

OBJECTIVES: Treatment with growth hormone (GH), alone or in combination with oxandrolone, is used in patients affected by Turner syndrome to improve growth velocity and adult height. Since GH interacts with gonadotropins in the stimulation of the human ovary, the aim of our study was to evaluate the possible effects of GH administration on uterine and ovarian characteristics. METHODS: We performed pelvic ultrasound assessment in 29 patients with Turner syndrome aged 7.5-16.6 years (19 with 45,X karyotype; 10 with variant karyotypes) before and during treatment with GH alone. Uterine volume and ovarian size and morphology were compared to those of 23 age-matched girls with Turner syndrome not treated with GH. Both patients and controls were divided into prepubertal and pubertal groups. Cross-sectional and longitudinal studies (before and every 6 months during GH treatment for 2 years) were performed. RESULTS: We observed a significantly higher uterine anteroposterior diameter and volume in younger (< or = 11 years) GH-treated Turner syndrome girls than in those who were untreated. Also visualization and heterogeneous echopattern of the ovaries were significantly more frequent in treated than in untreated Turner syndrome patients, particularly before the age of 11 years. The longitudinal study showed a significant increase in uterine volume, more related to treatment than to age. Spontaneous breast development and menarche were found more frequently in GH-treated Turner syndrome girls. CONCLUSION: Growth hormone therapy can have a co-gonadotropin role in patients with Turner syndrome.