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  • 文章类型: Case Reports
    氨酰-tRNA合成酶在催化氨基酸与其相应的tRNA的精确偶联中起关键作用。其中,酪氨酸tRNA合成酶,由YARS1基因编码,促进酪氨酸氨基酰化为其指定的tRNA。YARS1基因中的杂合变体已与常染色体显性遗传Charcot-Marie-ToothC型相关,虽然最近的研究结果揭示了双等位基因YARS1变异在几个病例中导致常染色体隐性多系统疾病。在这份报告中,我们提出了一个以异形相为特征的新颖案例,和多系统症状,突出包括神经系统问题,出生后不久进行的微阵列显示47,XXY。利用整个外显子组测序,我们发现了一种父系遗传的可能致病变异(c.1099C>T,p.Arg367Trp),此前报道,与父亲的听力损失史和神经症状相吻合。此外,一种意义不确定的母系遗传变体(c.782T>G,p.Leu261Arg),以前没有报道,在YARS1基因中鉴定。观察到的表型和复合杂合结果的存在与YARS1相关的常染色体隐性遗传疾病的诊断一致。通过我们的案例,这一新兴临床实体的界限扩大了.这个例子强调了在表现出复杂表型的患者中进行全面基因检测的重要性。
    Aminoacyl-tRNA synthetases play a pivotal role in catalyzing the precise coupling of amino acids with their corresponding tRNAs. Among them, Tyrosyl tRNA synthetase, encoded by the YARS1 gene, facilitates the aminoacylation of tyrosine to its designated tRNA. Heterozygous variants in the YARS1 gene have been linked to autosomal dominant Charcot-Marie-Tooth type C, while recent findings have unveiled biallelic YARS1 variants leading to an autosomal recessive multisystemic disorder in several cases. In this report, we present a novel case characterized by dysmorphic facies, and multisystemic symptoms, prominently encompassing neurological issues and a microarray conducted shortly after birth revealed 47, XXY. Utilizing whole exome sequencing, we uncovered a paternally inherited likely pathogenic variant (c.1099C > T, p.Arg367Trp), previously reported, coinciding with the father\'s history of hearing loss and neurological symptoms. Additionally, a maternally inherited variant of uncertain significance (c.782T > G, p.Leu261Arg), previously unreported, was identified within the YARS1 gene. The observed phenotypes and the presence of compound heterozygous results align with the diagnosis of an autosomal recessive disorder associated with YARS1. Through our cases, the boundaries of this emerging clinical entity are broadened. This instance underscores the significance of comprehensive genetic testing in patients exhibiting intricate phenotypes.
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  • 文章类型: Journal Article
    目的:Klinefelter综合征(KS)患者的甲状腺功能异常仍未解决。尽管已经报道了正常范围内的低游离甲状腺素(FT4)水平和正常的促甲状腺激素(TSH)水平,目前尚无该人群结节性甲状腺疾病的数据.这项研究旨在评估KS患者与健康对照组相比的甲状腺超声(US)检查结果。
    方法:对122名KS和85名年龄匹配的健康男性对照进行甲状腺超声筛查和甲状腺激素分析。根据美国的风险分层系统,结节≥1cm通过细针穿刺(FNA)检查。
    结果:甲状腺US在31%的KS中检测到结节性甲状腺疾病,而对照组为13%。患者与对照组之间最大结节的最大直径以及中度和高度可疑结节的最大直径未发现统计学差异。6例KS患者和2例结节对照者接受了FNA检查,经细胞学证实为良性。根据公布的数据,与对照组相比,FT4水平显着接近正常范围的下限,两组TSH值无差异。9%的KS患者被诊断为桥本甲状腺炎。
    结论:与对照组相比,我们观察到KS中结节性甲状腺疾病的患病率明显更高。结节性甲状腺疾病的增加可能与FT4水平低,TSH分泌不当有关,和/或遗传不稳定性。
    Thyroid dysfunction in patients with Klinefelter syndrome (KS) remains an unresolved issue. Although low free thyroxine (FT4) levels within the normal range and normal thyroid stimulating hormone (TSH) levels have been reported, there is currently no data on nodular thyroid disease in this population. This study aims to evaluate the results of thyroid ultrasound (US) examinations in KS patients compared with healthy controls.
    A cohort of 122 KS and 85 age-matched healthy male controls underwent thyroid US screening and thyroid hormone analysis. According to US risk-stratification systems, nodules ≥1 cm were examined by fine needle aspiration (FNA).
    Thyroid US detected nodular thyroid disease in 31% of KS compared to 13% of controls. No statistical differences in the maximum diameter of the largest nodules and in moderate and highly suspicious nodules were found between patients and the control group. Six KS patients and two controls with nodules underwent FNA and were confirmed as cytologically benign. In line with published data, FT4 levels were found significantly near the lower limit of the normal range compared to controls, with no differences in TSH values between the two groups. Hashimoto\'s thyroiditis was diagnosed in 9% of patients with KS.
    We observed a significantly higher prevalence of nodular thyroid disease in KS compared to the control group. The increase in nodular thyroid disease is likely linked to low levels of FT4, inappropriate TSH secretion, and/or genetic instability.
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  • 文章类型: Journal Article
    47,XXY(Klinefelter综合征[KS])是最常见的性染色体非整倍体(1:660),然而,尽管如此,只有25%的男性被诊断出来。患有47,XXY的男性在其一生中表现出特征性症状,典型的身体和神经发育表现集中在生长,认知发展,内分泌功能,和繁殖。研究表明,最佳结果取决于在整个生命周期中的早期检测以及一致和有针对性的神经发育治疗。在婴儿期和学龄前,47,XXY的个体通常面临早期荷尔蒙领域的生长和发育缺陷,电机,演讲,和行为发展。当他们过渡到学校时,主要的神经发育问题包括语言困难,执行功能障碍,行为,学习和阅读缺陷。47岁,XXY的成年人通常比平均身高高,低生育率,无精子症,和促性腺激素水平升高。这些表现可能从儿童早期一直持续到成年,但可以通过适当的干预措施来缓解。早期神经发育和激素治疗已被证明对47,XXY患者的身体和神经发育表现具有最小化的影响。通过创新和当前的研究,47,XXY的神经发育特征共有特征已进一步扩展和定义。需要进一步的研究来阐明和理解大脑之间的关系,行为,和47,XXY的表型特征。
    47,XXY (Klinefelter syndrome [KS]) is the most common sex chromosomal aneuploidy (1:660), yet, despite this, only 25% of the males are ever diagnosed. Males with 47,XXY present with characteristic symptoms throughout their lifetime with typical physical and neurodevelopmental manifestations focused in growth, cognitive development, endocrine function, and reproduction. Studies have demonstrated that optimal outcomes are dependent on early detection combined with consistent and targeted neurodevelopmental treatment throughout the lifespan. During infancy and into the preschool years, individuals with 47,XXY commonly face deficits in growth and development in the areas of early hormonal, motor, speech, and behavioral development. As they transition into school, the primary neurodevelopmental concerns include language difficulty, executive dysfunction, behavior, and learning and reading deficits. Adults with 47,XXY often present with taller than average height, low levels of fertility, azoospermia, and elevated gonadotropin levels. These presentations may persist from early childhood through adulthood but can be mitigated by appropriate interventions. Early neurodevelopmental and hormonal treatment has been shown to have a minimizing effect on the physical and neurodevelopmental manifestations in individuals with 47,XXY. With innovative and current research studies, the features common to the neurodevelopmental profile of 47,XXY have been further expanded and defined. Further research is necessary to elucidate and understand the relationship between the brain, behavior, and the phenotypic profile of 47,XXY.
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  • 文章类型: Journal Article
    Klinefelter综合征可以在生命的各个阶段表现为广泛的临床表现,使其成为染色体疾病,没有一套标准化的适当管理指南。了解这种综合征的遗传和激素原因可以使医生在更个性化的基础上治疗每个患者。诊断的时机和症状的程度可以指导治疗。本报告将对生命各个阶段的临床表现以及对管理的影响进行最新审查。
    Klinefelter syndrome can present as a wide spectrum of clinical manifestations at various stages in life, making it a chromosomal disorder with no standardized set of guidelines for appropriate management. Understanding the genetic and hormonal causes of this syndrome can allow physicians to treat each patient on a more individualized basis. The timing of diagnosis and degree of symptoms can guide management. This report will provide an updated review of the clinical presentation at various stages in life and the implications for management.
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  • 文章类型: Journal Article
    Aims: Klinefelter (XXY) and XXYY syndromes are genetic disorders in males characterized by additional sex chromosomes compared to the typical male karyotype of 46, XY. Both conditions have been previously associated with motor delays and motor skills deficits. We aimed to describe and compare motor skills in males with XXY and XXYY syndromes, and to analyze associations with age, cognitive abilities, and adaptive functioning. Methods: Sixty-four males with XXY and 46 males with XXYY, ages 4-20 were evaluated using the Beery Test of Visual Motor Integration and the Bruininks-Oseretsky Test of Motor Proficiency - 2nd Edition assessments, Vineland-2 adaptive scales, and cognitive testing. Results: Motor coordination impairments were found in 39% of the males with XXY and 73% of the males with XXYY. Both groups showed strengths in visual perceptual skills. Males with XXYY had lower mean scores compared to males with XXY across all assessments. Fine motor dexterity and coordination deficits were common. There was a positive correlation between VMI scores and adaptive functioning. Conclusion: Occupational and physical therapists should be aware of the motor phenotype in XXY and XXYY both to aid in diagnosis of unidentified cases and to guide intervention.
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  • 文章类型: Journal Article
    BACKGROUND: The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization (FISH) and preimplantation genetic diagnosis (PGD) treatment.
    METHODS: This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups, respectively. The incidence of each group, the fixation rate, and hybridization rate were calculated. Embryonic development and pregnancy outcomes were also analyzed. The measurement data were analyzed with Student\'s t-test. The comparison of categorical data was analyzed with the Chi-square test and Fisher\'s exact test when expected cell count was <5.
    RESULTS: The 53 PGD cycles with 433 embryos were analyzed. The fixation rate was 89.6%, while the hybridization rate was 96.4%. There were 283 embryos with two sex chromosomal signals with clear diagnosis (65.4%). The numbers of no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups were 45 (10.4%), 14 (3.2%), 24 (5.5%), and 67 (15.5%), respectively. Embryos with abnormal signals were abandoned. The number of good-quality embryos was 210 (57.4%), including implanted embryos on day 4/day 5 and cryopreserved. The rates of good-quality embryos in the no nuclei fixed (22.2%), no signal in fixed nuclei (28.6%), and suspensive signal groups (33.3%) were comparable (P > 0.05), and were significantly lower than the normal signal group (66.4%, P < 0.001). The clinical pregnancy rates of fresh and frozen embryos transferred cycles were 70.6% and 85.7%, respectively.
    CONCLUSIONS: Among embryos with a clear diagnosis of sex chromosome, about one-fifth showed abnormal signals. Embryos with two sex chromosomal signals are more likely to develop into good-quality ones. The application of the PGD by FISH may help to improve the clinical outcome s.
    非嵌合型47,XYY综合征不育男性采用荧光原位杂交技术行胚胎植入前诊断助孕治疗的结局摘要研究背景:47,XYY综合征可以造成生育困难。然而,很少有研究深入、完整地报道这类患者的胚胎发育情况及妊娠结局。本研究旨在评估非嵌合型47,XYY综合征不育男性采用荧光原位杂交技术行胚胎植入前诊断助孕治疗的结局 方法:本研究为回顾性研究,从2012年1月至2017年5月间,共纳入51例行FISH-PGD治疗的非嵌合型47,XYY综合征不育男性。依据性染色体的FISH检测结果,将胚胎分为正常信号组、无核组、无信号组、未确定组以及异常信号组。统计FISH的固定率及杂交率,统计各组占比。同时,分析胚胎发育情况及临床妊娠结局。 结果:本研究共分析53个PGD周期的433个胚胎。固定率为89.6%,杂交率为96.4%。共有283个胚胎明确出现2个性染色体信号(占65.4%)。无核组、无信号组、未确定组以及异常信号组的胚胎数分别为45(10.4%)、14(3.2%)、24(5.5%)及67(15.5%)。放弃异常信号的胚胎,将剩余胚胎继续培养。总体优质胚胎数为210(57.4%),包括移植胚胎及冷冻保存的胚胎。无核组、无信号组、未确定组的优胚率无明显差异,分别为22.2%、28.6%及33.3%(P>0.05),均显著低于正常信号组(66.4%,P<0.001)。鲜胚移植周期和冻胚移植周期的临床妊娠率分别为70.6%及85.7%。 结论:在所有性染色体明确诊断的胚胎中,有近五分之一的胚胎出现异常信号。出现正常性染色体信号的胚胎发育为优质胚胎的几率更大。应用FISH-PGD技术可以改善非嵌合型47,XYY综合征患者的生育结局。.
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  • 文章类型: Journal Article
    We report a 12-year-old male with Prader-Willi syndrome (PWS) and 47, XYY syndrome. Genetic work up revealed 47, XYY karyotype. PWS diagnosis was made by polymerase chain reaction methylation and maternal uniparental disomy (mUPD) was determined to be the etiology. Review of distinct behavioral features, possible interplay between the two syndromes and considerations for diagnoses are presented. To our knowledge, this is the first report of behavioral features in PWS with comorbid 47, XYY.
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  • 文章类型: Case Reports
    三X综合征(47,XXX)是一种影响1/1,000女性的数字染色体改变,女性出生时带有额外的X染色体。文献中已经报道了一些口头变化,作为低度,对牙釉质沉积的影响和头颅测量的差异。其他全身性并发症可能导致类似于三X患者的口腔异常,如先天性甲状腺功能减退症(CH)。本文报道了与后来治疗的CH相关的三重X综合征病例。除了认知和智力发展的延迟,患者的牙齿发育和头颅测量发生变化,上颌骨和下颌骨不足。这是与CH相关的三重X综合征的首次报道。这两种情况都可能导致牙面发育的变化。
    Triple X syndrome (47,XXX) is a numerical chromosomal alteration that affects 1/1,000 women, in which the woman is born with an extra X chromosome. Some oral changes have been reported in the literature, as hypodontia, influence on deposition of crown enamel and discrepancies in cephalometric measurements. Other systemic complications may lead to oral abnormalities similar to those seen in triple X patients, such as congenital hypothyroidism (CH). This paper reports a triple X syndrome case associated with CH later treated. Besides delay in cognitive and intellectual development, the patient had changes in teeth development and in cephalometric measurements with deficiencies in the maxilla and mandible. This is the first report of a triple X syndrome associated with CH. Both conditions may result in changes in dentofacial development.
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