Database : MEDLINE
Search on : klinefelter and syndrome [Words]
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[PMID]: 28960039
[Au] Autor:Lee HS; Park CW; Lee JS; Seo JT
[Ad] Address:Department of Urology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea.
[Ti] Title:Hypogonadism Makes Dyslipidemia in Klinefelter's Syndrome.
[So] Source:J Korean Med Sci;32(11):1848-1851, 2017 Nov.
[Is] ISSN:1598-6357
[Cp] Country of publication:Korea (South)
[La] Language:eng
[Ab] Abstract:Klinefelter's syndrome (KS) is a genetic syndrome that presents with hypogonadism and is associated with metabolic syndrome. Patients demonstrating hypogonadism show a greater prevalence of metabolic syndrome due to changes in body composition. We aimed to determine the association between KS and dyslipidemia. The KS group comprised 55 patients who visited the infertility clinic for an infertility evaluation and were confirmed as having a diagnosis of KS. The control group comprised 120 patients who visited the clinic for health screening. Patient characteristics were compared between the two groups with respect to height, weight, body mass index (BMI), testosterone, total cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, and triglyceride (TG) levels. Height and weight were significantly greater in patients belonging to the KS group, but no statistically significant difference was found with respect to the BMI. Testosterone levels in patients belonging to the KS group were significantly lower compared to the control group (2.4 ± 2.6 vs. 5.2 ± 1.8 ng/mL, P < 0.001). Compared to the control group, TG levels in patients belonging to the KS group were increased (134.9 ± 127.8 vs. 187.9 ± 192.1 mg/dL, P = 0.004) and HDL cholesterol was significantly decreased (51.2 ± 22.0 vs. 44.0 ± 9.5 mg/dL, P = 0.009). LDL cholesterol and total cholesterol were not significantly different between the two groups (P = 0.076 and P = 0.256, respectively). Significant differences were noted between patients belonging to the KS group and normal control group with respect to elevated TG and decreased HDL cholesterol levels.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 171101
[Lr] Last revision date:171101
[St] Status:In-Process
[do] DOI:10.3346/jkms.2017.32.11.1848

  2 / 3790 MEDLINE  
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[PMID]: 28647951
[Au] Autor:Close S; Talboy A; Fennoy I
[Ad] Address:Emory University, Nell Hodgson Woodruff School of Nursing, Atlanta, Georgia, USA, Department of Pediatric Genetics Emory University School of Medicine, USA.
[Ti] Title:Complexities of Care in Klinefelter Syndrome: An APRN Perspective.
[So] Source:Pediatr Endocrinol Rev;14 Suppl 2(Suppl 2):462-471, 2017 Jun.
[Is] ISSN:1565-4753
[Cp] Country of publication:Israel
[La] Language:eng
[Ab] Abstract:47,XXY (Klinefelter Syndrome) is associated with a spectrum of complex clinical needs that are associated with variable physical, neurocognitive and psychosocial aspects. For patients and families affected by this sex chromosome trisomy, navigation of health care services is difficult due to lack of 47,XXY awareness among many health care providers and little evidence to support endocrine and additional treatment plans. While endocrine management of androgen deficiency has been the mainstay of treatment for patients from puberty through adulthood, testosterone replacement, alone, fails to mitigate many symptoms and issues. Prior to the onset of puberty, boys with 47,XXY often do not receive interdisciplinary evaluations and treatment. Since multiple health and ancillary therapeutic services are required for the management of 47,XXY, patients and families often experience disjointed and uncoordinated care. We discuss complexities of caring for patients with 47,XXY and the benefit of integrating advanced practice nursing and medical perspectives to improve care delivery.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 171101
[Lr] Last revision date:171101
[St] Status:In-Process
[do] DOI:10.17458/per.vol14.2017.ctf.complexitiescareklinefelter

  3 / 3790 MEDLINE  
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[PMID]: 29077987
[Au] Autor:Alabdullatif Z; Coulombe J; Steffann J; Bodemer C; Hadj-Rabia S
[Ad] Address:Department of Dermatology, Reference center for genodermatoses and rare skin diseases (MAGEC), Université Paris Descartes - Sorbonne Paris Cité, INSERM U1163, Institut Imagine, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
[Ti] Title:Postzygotic mosaïcism and incontinentia pigmenti in male patients:molecular diagnosis yield.
[So] Source:Br J Dermatol;, 2017 Oct 27.
[Is] ISSN:1365-2133
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Incontinentia pigmenti (IP, MIM 308300) is an X-linked dominant genodermatosis caused by the more frequently occurring (80% of cases) deletion mutation Δ 4-10 on IKBKG gene, located on chromosome Xq28. Incontinentia Pigmenti is generally lethal in male fetuses, while heterozygous females survive owing to functional mosaicism. Two potential mechanisms have been proposed to explain the survival of male patients with IP carrying IKBKG mutation: (1) abnormal karyotype, i.e. 47, XXY Klinefelter syndrome; (2) more frequently postzygotic mosaicism for IKBKG mutation. Detection of postzygotic mosaicism is dependant of tissue sampling localization and percentage of mutated cells in the sample. This article is protected by copyright. All rights reserved.
[Pt] Publication type:LETTER
[Em] Entry month:1710
[Cu] Class update date: 171027
[Lr] Last revision date:171027
[St] Status:Publisher
[do] DOI:10.1111/bjd.16092

  4 / 3790 MEDLINE  
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[PMID]: 28401527
[Au] Autor:Liberato D; Granato S; Grimaldi D; Rossi FM; Tahani N; Gianfrilli D; Anzuini A; Lenzi A; Cavaggioni G; Radicioni AF
[Ad] Address:Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
[Ti] Title:Fluid intelligence, traits of personality and personality disorders in a cohort of adult KS patients with the classic 47, XXY karyotype.
[So] Source:J Endocrinol Invest;40(11):1191-1199, 2017 Nov.
[Is] ISSN:1720-8386
[Cp] Country of publication:Italy
[La] Language:eng
[Ab] Abstract:PURPOSE: Klinefelter's syndrome (KS) is associated with specific neurobehavioral features and personality traits. The aim of our study was to investigate fluid intelligence, personality traits and personality disorders (PD) and possible correlations with testosterone in a cohort of adult KS patients. METHODS: We analyzed 58 adult KS patients with the classic 47, XXY karyotype. The Structured Clinical Interview for axis II disorders was used to assess DSM IV personality disorders. Personality traits were assessed using MMPI-2. Fluid intelligence was tested by using Raven's Standard Progressive Matrices (SPM) Test. Testosterone blood concentration was measured by CMIA. RESULTS: PD prevalence was 31%. Four altered MMPI scales (Social Responsibility, Dominance, Ego Strength and Repression) were found in more than 40% of patients. Overcontrolled hostility and MacAndrew Alcoholism Scale-Revised scales were altered in the PD- group only. Biz-Odd Thinking and Post-Traumatic Stress Disorder scale were associated with the presence of personality disorder. The raw SPM score was 44 ± 10.8 without any significant correlation with testosterone. No significant difference in mean age, SPM raw score and MMPI score was observed between eugonadal, hypogonadal and treated patients. CONCLUSIONS: Most KS patients had average fluid intelligence. PD prevalence was higher than in the general population. Testosterone was not correlated with fluid intelligence, personality traits or PD, but a reduction in marital distress was observed in treated patients. This could suggest that testosterone therapy can improve physical symptoms and this effect could also improve relationship abilities and wellness awareness.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 171027
[Lr] Last revision date:171027
[St] Status:In-Process
[do] DOI:10.1007/s40618-017-0674-2

  5 / 3790 MEDLINE  
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[PMID]: 28601348
[Au] Autor:Flannigan R; Schlegel PN
[Ad] Address:Weill Cornell Medicine, New York, NY, USA. Electronic address: rkflanni@gmail.com.
[Ti] Title:Genetic diagnostics of male infertility in clinical practice.
[So] Source:Best Pract Res Clin Obstet Gynaecol;44:26-37, 2017 Oct.
[Is] ISSN:1532-1932
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Approximately 15% of couples are infertile. Male factors contribute to infertility in over 50% of cases. Identifiable genetic abnormalities contribute to 15%-20% of the most severe forms of male infertility, azoospermia. In this chapter, we explore known genetic causes of male infertility such as Klinefelter syndrome, XYY men, Kallmann syndrome, y-microdeletions, Robertsonian translocations, autosomal inversions, mixed gonadal dysgenesis, x-linked and autosomal gene mutations, and cystic fibrosis transmembrane conductance regulator abnormalities. We also briefly comment on novel biomarkers for male infertility.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1706
[Cu] Class update date: 171024
[Lr] Last revision date:171024
[St] Status:In-Process

  6 / 3790 MEDLINE  
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[PMID]: 28293480
[Au] Autor:Skakkebæk A; Moore PJ; Pedersen AD; Bojesen A; Kristensen MK; Fedder J; Laurberg P; Hertz JM; Østergaard JR; Wallentin M; Gravholt CH
[Ad] Address:Department of Endocrinology and Internal Medicine (MEA)Aarhus University HospitalAarhusDenmark; Department of Clinical GeneticsAarhus University HospitalAarhusDenmark.
[Ti] Title:The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome.
[So] Source:Brain Behav;7(3):e00645, 2017 Mar.
[Is] ISSN:2162-3279
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:INTRODUCTION: The determinants of cognitive deficits among individuals with Klinefelter syndrome (KS) are not well understood. This study was conducted to assess the impact of general intelligence, personality, and social engagement on cognitive performance among patients with KS and a group of controls matched for age and years of education. METHODS: Sixty-nine patients with KS and 69 controls were assessed in terms of IQ, NEO personality inventory, the Autism Spectrum Quotient (AQ) scale, and measures of cognitive performance reflecting working memory and executive function. RESULTS: Patients with KS performed more poorly on memory and executive-function tasks. Patients with KS also exhibited greater neuroticism and less extraversion, openness, and conscientiousness than controls. Memory deficits among patients with KS were associated with lower intelligence, while diminished executive functioning was mediated by both lower intelligence and less social engagement. CONCLUSION: Our results suggest that among patients with KS, memory deficits are principally a function of lower general intelligence, while executive-function deficits are associated with both lower intelligence and poorer social skills. This suggests a potential influence of social engagement on executive cognitive functioning (and/or vice-versa) among individuals with KS, and perhaps those with other genetic disorders. Future longitudinal research would be important to further clarify this and other issues discussed in this research.
[Mh] MeSH terms primary: Cognitive Dysfunction/physiopathology
Executive Function/physiology
Intelligence/physiology
Klinefelter Syndrome/physiopathology
Memory, Short-Term/physiology
Personality/physiology
Social Skills
[Mh] MeSH terms secundary: Adolescent
Adult
Cognitive Dysfunction/etiology
Cognitive Dysfunction/genetics
Humans
Intelligence/genetics
Klinefelter Syndrome/complications
Klinefelter Syndrome/genetics
Male
Middle Aged
Personality/genetics
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171023
[Lr] Last revision date:171023
[Js] Journal subset:IM
[Da] Date of entry for processing:170315
[St] Status:MEDLINE
[do] DOI:10.1002/brb3.645

  7 / 3790 MEDLINE  
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[PMID]: 29040537
[Au] Autor:Donker RB; Vloeberghs V; Groen H; Tournaye H; van Ravenswaaij-Arts CMA; Land JA
[Ad] Address:University of Groningen, University Medical Centre Groningen, Department of Obstetrics and Gynaecology, PO Box 30001, Groningen, 9700 RB, The Netherlands.
[Ti] Title:Chromosomal abnormalities in 1663 infertile men with azoospermia: the clinical consequences.
[So] Source:Hum Reprod;:1-7, 2017 Oct 13.
[Is] ISSN:1460-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:STUDY QUESTION: What is the prevalence of chromosomal abnormalities in azoospermic men and what are the clinical consequences in terms of increased risk for absent spermatogenesis, miscarriages and offspring with congenital malformations? SUMMARY ANSWER: The prevalence of chromosomal abnormalities in azoospermia was 14.4%, and the number of azoospermic men needed to be screened (NNS) to identify one man with a chromosomal abnormality with increased risk for absence of spermatogenesis was 72, to prevent one miscarriage 370-739 and to prevent one child with congenital malformations 4751-23 757. WHAT IS KNOWN ALREADY: Infertility guidelines worldwide advise screening of non-iatrogenic azoospermic men for chromosomal abnormalities, but only few data are available on the clinical consequences of this screening strategy. STUDY DESIGN, SIZE, DURATION: This retrospective multicentre cross-sectional study of non-iatrogenic azoospermic men was performed at the University Hospital Brussels, Belgium, and the University Medical Centre Groningen, The Netherlands, between January 2000 and July 2016. PARTICIPANTS/MATERIALS, SETTING, METHODS: Analysis of clinical registries retrospectively identified 1663 non-iatrogenic azoospermic men with available results of karyotyping and FSH serum levels. Iatrogenic azoospermia was an exclusion criterion, defined as azoospermia after spermatotoxic medical treatment, exogenous androgen suppletion or vasectomy and/or vasovasostomy. Also, men with a clinical diagnosis of anejaculation or hypogonadotropic hypo-androgenism and/or FSH values <1.0 U/l were excluded. Chromosomal abnormalities were categorized according to their (theoretical) impact on clinical consequences for the patient (i.e. an increased risk for absence of spermatogenesis) and adverse pregnancy outcomes (i.e. miscarriage or offspring with congenital malformations), in both normogonadotropic (FSH < 10 U/l) and hypergonadotropic (FSH ≥ 10 U/l) azoospermia. We estimated the NNS for chromosomal abnormalities to identify one man with absence of spermatogenesis and to prevent one miscarriage or one child with congenital malformations, and calculated the surgical sperm retrieval rates per chromosomal abnormality. MAIN RESULTS AND THE ROLE OF CHANCE: The overall prevalence of chromosomal abnormalities in azoospermia was 14.4% (95% CI 12.7-16.1%), its prevalence being higher in hypergonadotropic azoospermia (20.2%, 95% CI 17.8-22.7%) compared to normogonadotropic azoospermia (4.9%, 95% CI 3.2-6.6%, P < 0.001). Klinefelter syndrome accounted for 83% (95% CI 77-87%) of abnormalities in hypergonadotropic azoospermia. The NNS to identify one man with increased risk for absence of spermatogenesis was 72, to prevent one miscarriage 370-739, and to prevent one child with congenital malformations 4751-23 757. There was no clinically significant difference in NNS between men with normogonadotropic and hypergonadotropic azoospermia. The surgical sperm retrieval rate was significantly higher in azoospermic men with a normal karyotype (60%, 95% CI 57.7-63.1%) compared to men with a chromosomal abnormality (32%, 95% CI 25.9-39.0%, P < 0.001). The sperm retrieval rate in Klinefelter syndrome was 28% (95% CI 20.7-35.0%). LIMITATIONS, REASONS FOR CAUTION: The absolute number of chromosomal abnormalities associated with clinical consequences and adverse pregnancy outcomes in our study was limited, thereby increasing the role of chance. Further, as there are currently no large series on outcomes of pregnancies in men with chromosomal abnormalities, our conclusions are partly based on assumptions derived from the literature. WIDER IMPLICATIONS OF THE FINDINGS: The NNS found can be used in future cost-effectiveness studies and the evaluation of current guidelines on karyotyping in non-iatrogenic azoospermia. STUDY FUNDING/COMPETING INTEREST(S): None to declare.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171017
[Lr] Last revision date:171017
[St] Status:Publisher
[do] DOI:10.1093/humrep/dex307

  8 / 3790 MEDLINE  
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[PMID]: 29038865
[Au] Autor:Monté AMC; D'Arco F; De Cocker LJL
[Ad] Address:Department of Neurology, AZ Sint-Elisabeth Zottegem, Godveerdegemstraat 69, 9620, Zottegem, Belgium.
[Ti] Title:Multinodular and vacuolating neuronal tumor in an adolescent with Klinefelter syndrome.
[So] Source:Neuroradiology;, 2017 Oct 16.
[Is] ISSN:1432-1920
[Cp] Country of publication:Germany
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1710
[Cu] Class update date: 171017
[Lr] Last revision date:171017
[St] Status:Publisher
[do] DOI:10.1007/s00234-017-1934-8

  9 / 3790 MEDLINE  
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[PMID]: 29030589
[Au] Autor:Brand C; Zitzmann M; Eter N; Kliesch S; Wistuba J; Alnawaiseh M; Heiduschka P
[Ad] Address:Institute of Reproductive and Regenerative Biology, Centre of Reproductive Medicine and Andrology, University of Muenster, Muenster, Germany.
[Ti] Title:Aberrant ocular architecture and function in patients with Klinefelter syndrome.
[So] Source:Sci Rep;7(1):13130, 2017 Oct 13.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Klinefelter Syndrome (KS), the most common chromosomal disorder in men (47,XXY), is associated with numerous comorbidities. Based on a number of isolated case reports, we performed the first systematic and comprehensive evaluation of eye health in KS patients with a focus on ocular structure and vascularization. Twenty-one KS patients and 26 male and 38 female controls underwent a variety of non-invasive examinations investigating ocular morphology (examination of retinal thickness, optic nerve head, and cornea) and function (visual field testing and quantification of ocular vessel density by optical coherence tomography angiography). In comparison to healthy controls, KS patients exhibited a smaller foveal avascular zone and a decreased retinal thickness due to a drastically thinner outer nuclear layer. The cornea of KS patients showed a decreased peripheral thickness and volume. In perimetry evaluation, KS patients required brighter stimuli and gave more irregular values. KS patients show an ocular phenotype including morphological and functional features, which is very likely caused by the supernumerary X chromosome. Thus, KS should not be limited to infertility, endocrine dysfunction, neurocognitive and psychosocial comorbidities. Defining an aberrant ocular morphology and function, awareness for possible eye problems should be raised.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171019
[Lr] Last revision date:171019
[St] Status:In-Data-Review
[do] DOI:10.1038/s41598-017-13528-4

  10 / 3790 MEDLINE  
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[PMID]: 29035110
[Au] Autor:Zampini L; Burla T; Silibello G; Dall'Ara F; Rigamonti C; Lalatta F; Vizziello P
[Ad] Address:a Dipartimento di Psicologia , Università degli Studi di Milano-Bicocca , Milan , Italy.
[Ti] Title:Early communicative skills of children with Klinefelter syndrome.
[So] Source:Clin Linguist Phon;:1-10, 2017 Oct 16.
[Is] ISSN:1464-5076
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Many studies reported the presence of language impairments in children and adolescents with Klinefelter syndrome (KS). However, the first stage of their language development has been scarcely studied. The present study aimed to describe the spontaneous communicative production of 18-month-old children with KS, in comparison with that of typically developing (TD) male peers, aiming to verify the existence of different early communicative skills in both vocal and gestural modality and to identify the presence of possible associations with their later vocabulary size. Children with KS showed a lower competence in both lexical skills and emergent syntactic abilities than TD peers. No significant differences were found in gesture production. Considering the possibility of identifying an association between early communicative skills and later vocabulary size, the vocal production of TD children appeared to be significantly related to their later lexical skills; whereas, the number of gestures produced by children with KS appeared to be related to their later lexical abilities. The early detection of language risk factors will allow early intervention and careful monitoring of these children's communicative development.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171016
[Lr] Last revision date:171016
[St] Status:Publisher
[do] DOI:10.1080/02699206.2017.1384853


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