特纳综合征患者肝功能异常的高发生率及其影响因素

目的探讨特纳综合征(TS)患者肝功能异常的发生率及其影响因素。方法 2010年3月至2015年7月就诊于北京协和医院内分泌科矮小门诊的TS患者44例,年龄(13.6±5.0)岁;120例行健康体检的女童为正常对照,年龄(13.2±0.7)岁。全部测量身高、体质量,检测丙氨酸氨基转氨酶(ALT)、总胆红素(TBil)等肝功能指标,44例TS患者均行染色体核型分析。结果 TS患者肝功能异常的发生率为18.2%,主要表现为ALT升高,对照组肝功能异常的发生率为3.3%。TS患者ALT正常组和异常组在年龄、BMI、核型方面未见显著性差异。结论肝功能异常在TS患者中发生率高,建议定期检查肝功能。矮小伴不明原因肝功能异常的女性需注意筛查特纳综合征。     

特纳综合征患者早期雌激素替代治疗改善骨密度

目的探讨早期雌激素替代治疗对特纳综合征(TS)患者骨密度(BMD)改善的效果。方法选取2005年8月到2015年8月就诊于北京协和医院内分泌科矮小门诊的27例TS患者,全部测量身高、体质量,雌激素治疗前后的骨密度由LUNAR-PRODGIY型骨密度仪进行测量。比较TS患者雌激素替代治疗前后骨密度的差异,治疗起始年龄对骨密度的影响。结果应用雌激素治疗后1年内、1~3年、3年L2-4的骨密度分别为(0.96±0.13)g/cm~2、(0.92±0.13)g/cm~2、(0.93±0.14)g/cm~2,显著高于基线水平分别为(0.73±0.08)g/cm~2、(0.70±0.13)g/cm~2、(0.75±0.07)g/cm~2;治疗起始年龄18岁组L2-4骨密度(0.96±0.14)g/cm2显著高于治疗起始年龄≥18岁组(0.90±0.10)g/cm~2。结论早期雌激素替代治疗可更有效地改善TS患者骨密度,但影响骨密度的其他因素仍需进一步深入探究。     

特纳综合征14例核型与临床分析

目的探讨Turner综合征患者由于核型的差异在临床表现上的不同。方法采用外周血淋巴细胞培养常规染色体G显带技术对14例Turner综合征进行核型分析,对比其临床表现与不同核型之间的关系。结果 Turner综合征患者临床表现多样,主要核型有单体型、嵌合型、X染色体结构异常、含Y染色体。结论 X染色体缺失或部分缺失是导致Turn-er综合征的主要原因,身材矮小、第二性征发育不良是其典型的表现,临床表现取决于核型异常的程度及异常核型和正常核型细胞系的比例。     

特纳综合征患者颌面部特征的临床意义

特纳综合征患者具有特征性的颌面部异常,与多种疾病相关,包括传导性听力丧失、喂养困难、睡眠呼吸暂停和发声异常等。特纳综合征颌面部特征可以通过头影测量学进行定量研究,还可以利用颌面部特征进行产前诊断。这些颌面部异常可能与X染色体上影响第一咽弓发育的基因相关,如SHOX;还可能与X染色体上影响组蛋白修饰的基因相关,如HDAC8。长期生长激素治疗对特纳综合征患者颅面发育具有改善作用,对下颌支的影响最明显,然而生长激素治疗不能使颌面部异常完全正常化。因其诊断价值、相关疾病风险和治疗可能,特纳综合征患者的异常颌面部特征应该引起更多的关注。     

34例特纳综合征羊水染色体核型分析与临床诊断

目的研究不同产前诊断指征在胎儿特纳综合征诊断中的应用价值。方法通过对有产前诊断指征的14 837例孕妇行羊膜腔穿刺,抽取羊水进行羊水细胞遗传学检查。胎儿染色体结构异常者需对父母进行外周血染色体检查。结果本实验室14 837例羊水,共检测出34例特纳综合征,其中17例45,X,17例为嵌合型特纳综合征核型,异常率为0.2%(34/14837),特纳综合征的产前诊断指征主要为唐氏筛查高危,23例,占总的67.6(23/34),还有胎儿水肿,父母地贫携带者等。结论特纳综合征的检测唐氏血清学筛查中孕期产前诊断指征中最重要的指标,应做好产前诊断。     

特纳综合征患者的染色体核型及临床表现特点

目的:分析特纳综合征(Turner syndrome,TS)患者的染色体核型及临床特点,以提高对此病的认识和诊疗水平,为早期发现特殊核型提供临床依据.方法:对确诊患者的临床表现、性激素水平、骨龄及染色体核型等进行分析和总结.结果:24例确诊为TS患者,首发临床表现均为身材矮小,有50％骨龄比实际年龄延后;50％具有TS典型体征,83.33％有促性腺激素水平明显偏高,50％未见卵巢组织;染色体核型分析提示33.33％为45,XO,50％为45X嵌合体,其余为其他类型;16.67％的患者有垂体瘤,8.33％有心血管结构异常,部分患者心电图有异常,8.33％有促甲状腺激素水平增高;PCR检测SRY基因均阴性,未发现Y染色质.结论:TS患者因细胞核型的不同,临床表现有所差异,且各种核型与临床表现有时并不完全相对应;对于矮小症女童,应常规行染色体核型分析;对于出现不能由传统核型分析鉴定的特殊染色体或者核型为45,XO的患者尽早行Y染色体检测,有利于发现异常的Y染色体,为是否需要预防性切除性腺提供依据.     

云南地区89例儿童特纳综合征临床与细胞遗传学研究

目的 观察分析云南地区89例儿童特纳综合征（TS）染色体核型及临床特征。方法 选择2013—2022年在昆明市儿童医院诊断为TS的儿童89例,对患儿临床表现与染色体核型进行分析。结果 89例患者平均诊断年龄（10.7±3.3）岁,平均身高（119.6±14.2）cm,身高落后（3.8±1.5）SDS。核型表现为单体型51例（56.7%）,单纯结构异常型7例（7.8%）,单纯嵌合型8例（8.8%）,嵌合+结构变异型24例（26.7%）,发现1例45,X/47,XXY嵌合型;3例小标记染色体。单体型（45,X）和其他核型的生长激素激发峰值转换为正态分布后,使用两独立样本t检验（t=–2.363,P=0.021）,提示差异无统计学意义。45例患儿使用了重组人生长激素（rhGH）治疗,起始治疗年龄（11.4±3.3）岁。28人治疗满1年,年生长速率（8.0±1.6）cm;12人治疗满2年,年生长速率（6.7±1.4）cm;3人治疗满3年,年生长速率（7.3±3.1）cm。结论 特纳综合征临床诊断年龄较晚,需提高临床医生的临床意识,生长激素激发试验对TS患者诊治的指导意义有限,矮小联合高促卵泡生...     

不同切面超声心动图检查对胎儿心血管畸形的诊断价值

目的评价不同切面超声心动图检查在胎儿心血管畸形筛查中的诊断价值。方法通过对3000例20-28周的孕妇进行不同切面超声心动图检查及部分染色体核型检查及尸检结果,统计分析不同切面超声心动图检查对各种胎儿心脏畸形的检出率及敏感性。结果诊断先天性心脏病34例,发病率为1.1%,其中明确诊断27例,漏诊6例,误诊1例,标准三切面筛查的诊断敏感性为77.8%。结论标准三个切面超声心动图检查对胎心血管畸形筛查有较高的敏感性及特异性,是胎儿心脏心血管畸形筛查的首选方法。     

阿尔茨海默病患者可出现心血管异常

意大利Brescia大学的Allesandro Padovani博士和同事们在2005年12月的《美国老年医学会杂志》（J Am Geriatr Soc，2005；53：2135—2139）上报告，阿尔茨海默病患者和轻度认知损害患者的某些心血管参数的显著改变可能有助于预测认知功能障碍过程和死亡风险。     

Intelligence among persons with Turner's syndrome

Wechsler intelligence scale IQ distributions from a representative sample of 67 persons with Turner's syndrome are compared with distributions from a control sample of subjects individually matched for age, race, education, and other social characteristics. Among the probands, there is no increased incidence of either severe or moderate retardation, intelligence is similar regardless of karyotype or somatic stigmata, and the characteristic cognitive deficit is similar among both children and young adults.This research was supported by grants from the National Institute of Child Health and Human Development (HD 03742).     

临沂地区62例Turner综合征患者的细胞遗传学分析

目的 探讨临沂地区Turner综合征患者的染色体类型及与临床症状间的关系.方法 用1640培养基培养淋巴细胞,常规收获制片,G带显色(必要时加做C带显色),按人类细胞遗传学国际命名体制2005(ISCN2005)进行染色体核型分析.结果 62例Turner综合征患者检出染色体异常核型16种,包括:45,X、46,X,i(X)(q10)、45,X/46,XX、45,X/46,XY等,发现世界首报染色体异常核型1例.结论 临沂地区Turner综合征患者染色体的类型较多,临床表现差异较大.     

Spatial and temporal processing in patients with Turner's syndrome

Thirteen females with Turner's syndrome were examined for spatial abilities and serial processing, and their performance was compared with that of normal females matched by age, intelligence, and socioeconomic class. Patients with Turner's syndrome performed significantly poorer on tests of spatial ability than controls, but only on spatial tests requiring the integration of isolated elements as synthetic wholes or the remembering of spatial configurations which could not be verbally mediated. Patients also performed less well than controls on tasks of serial processing when the tasks could not be mediated verbally. It was concluded that patients with Turner's syndrome may have a selective deficit in cortical junctions that are lateralized to the right cerebral hemisphere.The work for this study was performed while the authors were supported by a grant from the Grant Foundation, and while P. H. W. was supported by USPHS Research Grants MH 18332-04 and HD 03 0773 and by USPHS Career Scientist Award MHK 3461.     

Turner's syndrome patients lack tight junctions between uterine epithelial cells.

Eleven endometrial biopsies, taken from six Turner's syndrome patients receiving hormone replacement therapy prior to treatment by oocyte donation and embryo transfer, were assessed by freeze fracture followed by electron microscopy for epithelial tight junctions. Nine of the eleven biopsies had no discernible tight junctions; the other two biopsies had reduced and disorganized junctional structures. Two patients subsequently became pregnant following embryo transfer. It is concluded that compromised epithelial integrity does not prevent embryo implantation in the human, an observation that is consistent with a barrier role for the epithelium except at times when appropriately conditioned with oestrogen and progesterone to induce receptivity for implantation.     

Turner's syndrome and pregnancies after oocyte donation

A total of 20 clinical pregnancies was achieved among 18 women with Turner's syndrome who were treated in an oocyte donation programme. The oocytes were donated by voluntary unpaid donors. A mean of 1.8 embryos per transfer was given to each recipient by way of 28 fresh and 25 frozen embryo transfers. With fresh and frozen embryos, 13 and seven pregnancies respectively were achieved. The clinical pregnancy rate per fresh embryo transfer was 46%, and the implantation rate 30%, being similar to the corresponding rates among our oocyte recipients with primary ovarian failure in general. The corresponding rates with frozen embryos were 28 and 19%. Of these pregnancies, 40% ended in miscarriage. This high rate may be explained by uterine factors. Six women were hypertensive during pregnancy, a rate comparable with that in other oocyte donation pregnancies. All these women delivered by Caesarean section. Pregnancy and implantation rates after oocyte donation were high in women with Turner's syndrome, but the risk of cardiovascular and other complications is high. Careful assessment before and during follow-up of pregnancy are important. Transfer of only one embryo at a time to avoid the additional complications caused by twin pregnancy is recommended.     

Turner's syndrome with concomitant hypopituitarism: case report

The unique case of a young woman with concomitant pituitary insufficiency and gonadal dysgenesis due to Turner's syndrome is described. At the age of 17 years, when first examined elsewhere, this patient was prepubertal and short and a diagnosis of growth hormone deficiency was made. One year later, while on growth hormone (GH) substitution, thyrotrophin deficiency and hypogonadotrophic hypogonadism were confirmed and thyroxine and sex steroid substitution therapy was initiated. Upon evaluation in our clinic, at the age of 30 years, the low final height achieved with the GH substitution therapy, a number of clinical characteristics and the absence of ovarian tissue on ultrasound led to examination of the patient's karyotype, which revealed concurrent gonadal dysgenesis due to Turner's syndrome. This case illustrates that the co-existence of primary and secondary hypogonadism may obscure and delay the diagnosis of Turner's syndrome, a diagnosis which alters the counselling of the patient from the reproductive perspective.     

Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III

The aim of this article is to describe neurovascular findings in patients with Loeys Dietz syndrome type III and their possible clinical impact. Loeys Dietz syndrome type III, caused by pathogenic SMAD3 variants, is an autosomal dominant syndrome characterized by aneurysms and arterial tortuosity in combination with osteoarthritis. Neurovascular abnormalities have been described in other heritable aortic syndromes, however, reliable data in Loeys Dietz syndrome type III is missing.In our tertiary center, all adult patients with confirmed Loeys Dietz syndrome type III are followed in a standardized aorta outpatient clinic including Computed Tomography Angiography (CTA) of the head and neck region at baseline and (tri) yearly during follow-up. We performed an analysis of the neurovascular imaging findings and clinical follow-up. The primary outcome was a combined endpoint of mortality, dissection, cerebral vascular event and intervention. In addition, tortuosity and vascular growth were assessed. In total 26 patients (mean age 38.4 years, 38.5% males) underwent 102 (mean 3.9 (1-8) per patient) neurovascular Computed Tomography Angiography scans between 2010 and 2021. In 84.6% some form of neurovascular abnormality was found. The abnormalities at baseline were aneurysm (26.9%) dissection flap (7.7%), arterial tortuosity (61.5%), arterial coiling (23.1%) and arterial kinking (3.8%). During follow up (mean 8.85 (1-11) years) one patient suffered from sudden death and one patient needed a neuro-radiological intervention. No cerebral bleeding or stroke occurred.In conclusion, neurovascular imaging in Loeys Dietz syndrome type III patients revealed abnormalities such as aneurysm, tortuosity, coiling and kinking in the vast majority of patients, but clinical events were rare. Neurovascular screening and follow up is advised in all Loeys Dietz syndrome type III patients.     

An aetiological study of isochromosome-X Turner's syndrome

In an attempt to resolve conflicting evidence from the literature concerning the existence of a paternal age effect in 46,X,i(Xq) Turner's syndrome, we have analysed data on all known cases ascertained in the main population centres of Scotland and on others ascertained in England, using population controls matched for year of birth. There was a significant (P = 0.02) increase of 2.3 years in the mean paternal age of the Scottish cases, and a smaller and non-significant increase in their mean maternal age. Logistic regression analysis confirmed that the primary association was with paternal, rather than maternal, age. For the English cases, however, there were small and non-significant decreases in their mean maternal and paternal ages. The differences between the two groups were also significant, but cannot be explained by any likely source of ascertainment bias. We therefore conclude that there is no evidence for a universal paternal age effect in this condition, but that at least one mechanism of origin, occurring with variable frequency, may be associated with increased paternal age. Using data from this and earlier published studies, we estimate the incidence of individuals with a 46,X,i(Xq) cell line to be between 3.3 and 13 per 10⁵ female livebirths.     

Cardiac abnormalities in the Rubinstein-Taybi syndrome

In order to evaluate the incidence of cardiac anomalies, type of cardiac defects, and their impact in the Rubinstein-Taybi syndrome (RTS), a questionnaire study was done. Fortyfive of 138 patients in the study (32.6%) had a known cardiac abnormality; 27 patients had single defects including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), coarctation of the aorta, pulmonic stenosis, or bicuspid aortic valve. Eight of these individuals had spontaneous resolution of their problems, while 8 required surgery. Sixteen patients had complex congenital heart defects or two or more abnormalities. Two patients had spontaneous resolution, while 7 required surgery. Surgery is planned in 5 additional patients. Five patients had conduction abnormalities. Individuals with congenital heart defects did not have a higher incidence of other birth defects. The significant incidence and potential severity of cardiac anomalies in our patients suggest that a cardiac evaluation should be strongly considered in patients with RTS. © 1995 Wiley-Liss, Inc.     

Body height in Turner's syndrome

Disease-specific growth curves for Turner's syndrome were calculated by means of 2nd order homogeneous differential equations with constant coefficients, taking different cytogenetical subtypes into account. Comparison of these growth curves between X-monosomic (n=64) and 46,XX/45,X-mixoploid (n = 20) patients reveals no differences, in contrast to the commonly accepted opinion.