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Klinefelter Syndrome

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https://www.readbyqxmd.com/read/29040537/chromosomal-abnormalities-in-1663-infertile-men-with-azoospermia-the-clinical-consequences
#1
R B Donker, V Vloeberghs, H Groen, H Tournaye, C M A van Ravenswaaij-Arts, J A Land
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...
October 13, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29035110/early-communicative-skills-of-children-with-klinefelter-syndrome
#2
Laura Zampini, Tiziana Burla, Gaia Silibello, Francesca Dall'Ara, Claudia Rigamonti, Faustina Lalatta, Paola Vizziello
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...
October 16, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/29030589/aberrant-ocular-architecture-and-function-in-patients-with-klinefelter-syndrome
#3
Cristin Brand, Michael Zitzmann, Nicole Eter, Sabine Kliesch, Joachim Wistuba, Maged Alnawaiseh, Peter Heiduschka
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)...
October 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29022558/klinefelter-syndrome-in-childhood-variability-in-clinical-and-molecular-findings
#4
Neşe Akcan, Şükran Poyrazoğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler
OBJECTIVE: Klinefelter syndrome (KS) is the most common (1/500-1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of the children with KS to assess the age and reason for diagnosis, clinical and laboratory findings, as well as the presence of comorbidities. METHODS: Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting symptoms, comorbid problems, height, weight, pubertal status, biochemical findings, hormone profiles, bone mineral density, and karyotype were evaluated...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29021279/long-term-fragility-of-y-chromosomes-is-dominated-by-short-term-resolution-of-sexual-antagonism
#5
Heath Blackmon, Yaniv Brandvain
The evolution of heteromorphic sex chromosomes has fascinated biologists, inspiring theoretical models, experimental studies, and studies of genome structure. This work has produced a clear model, in which heteromorphic sex chromosomes result from repeated fixations of inversions (or other recombination suppression mechanisms) that tether sexually antagonistic alleles to sex-determining regions, followed by the degeneration of these regions induced by the lack of sex chromosome recombination in the heterogametic sex...
October 11, 2017: Genetics
https://www.readbyqxmd.com/read/28990672/microdissection-testicular-sperm-extraction-in-finland-results-of-the-first-100-patients
#6
Rauni Klami, Harri Mankonen, Antti Perheentupa
INTRODUCTION: Testicular microdissection sperm extraction (MD-TESE) combined with intracytoplasmic sperm injection (ICSI) has made biological fatherhood possible for many men with the most severe form of male infertility, non-obstructive azoospermia. MD-TESE was introduced in Turku in 2008, and by 2015, 100 Finnish men with non-obstructive azoospermia have been operated on. MATERIAL AND METHODS: The average age was 33 years at the time of surgery. Forty-eight had a needle biopsy previously, 56% had testicular size less than 15ml...
October 9, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28973759/down-klinefelter-syndrome-48-xxy-21-in-a-neonate-associated-with-congenital-heart-disease
#7
M A Rodrigues, L F Morgade, L F A Dias, R V Moreira, P D Maia, A F H Sales, P D Ribeiro
Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B and significant left ventricular failure, moderate atrioventricular valve regurgitation, right-sided heart failure, and preserved systolic function...
September 27, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28960039/hypogonadism-makes-dyslipidemia-in-klinefelter-s-syndrome
#8
Hyo Serk Lee, Chan Woo Park, Joong Shik Lee, Ju Tae Seo
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...
November 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28937389/incontinentia-pigmenti-an-x-linked-dominant-disorder-in-a-2-year-old-boy-with-klinefelter-syndrome
#9
Abhilasha Williams, Laxmisha Chandrashekar, Vivi M Srivastava, Meera Thomas, Saban Horo, Renu George
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder, in which skin lesions distributed along Blaschko's lines appear shortly after birth. Early lesions which are erythematous/bullous evolve over time into warty lesions, hyperpigmented swirls/macules, and atrophic hypopigmented streaks. Clinical features are heterogeneous. Abnormalities of the teeth, nails, hair, eyes, central nervous system, and breast may also be present. While intelligence is generally normal, varied degrees of intellectual disability/developmental delay have been reported...
July 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28902077/hematopoietic-stem-cell-transplantation-for-myelodysplastic-syndrome-in-a-child-with-klinefelter-syndrome
#10
Esra Serdaroğlu, Baris Kuskonmaz, Yasemin Alanay, Selin Aytac, Mualla Cetin, Duygu U Cetinkaya
No abstract text is available yet for this article.
September 8, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28895703/-double-aneuploidy-klinefelter-and-edwards-syndromes-48-xxy-18-case-report
#11
Mailén Costa, Silvia Ávila
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28883919/a-case-of-klinefelter-syndrome-with-hypersexual-desire
#12
Kingsley Okolie, Sumathy Perampalam, Anthony Barker, Christopher J Nolan
Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the typical karyotype of 47,XXY due to a supernumerary X chromosome, which causes progressive testicular failure resulting in androgen deficiency and infertility. Despite it being the most common sex chromosomal disorder, its diagnosis is easily missed. In addition to its classical clinical features of tall stature, gynaecomastia, small testes, and symptoms and signs of hypogonadism including infertility, KS is also often associated with neurocognitive, behavioural and psychiatric disorders...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28854582/incidence-prevalence-diagnostic-delay-morbidity-mortality-and-socioeconomic-status-in-males-with-46-xx-disorders-of-sex-development-a-nationwide-study
#13
A Berglund, T H Johannsen, K Stochholm, L Aksglaede, J Fedder, M H Viuff, K M Main, C H Gravholt
STUDY QUESTION: What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)? SUMMARY ANSWER: 46,XX DSD males had an increased overall morbidity compared to male background population controls, and the socioeconomic status was inferior on outcome parameters such as education and long-term income. WHAT IS KNOWN ALREADY: 46,XX DSD males are rare and estimates of prevalence and incidence are limited...
August 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#14
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28801929/validation-and-application-of-a-novel-integrated-genetic-screening-method-to-a-cohort-of-1-112-men-with-idiopathic-azoospermia-or-severe-oligozoospermia
#15
Manon S Oud, Liliana Ramos, Moira K O'Bryan, Robert I McLachlan, Özlem Okutman, Stephane Viville, Petra F de Vries, Dominique F C M Smeets, Dorien Lugtenberg, Jayne Y Hehir-Kwa, Christian Gilissen, Maartje van de Vorst, Lisenka E L M Vissers, Alexander Hoischen, Aukje M Meijerink, Kathrin Fleischer, Joris A Veltman, Michiel J Noordam
Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic. Here, we describe a novel method using single molecule Molecular Inversion Probes (smMIPs), to screen infertile men for mutations and copy number variations affecting known disease genes. We designed a set of 4,525 smMIPs targeting the coding regions of causal (n = 6) and candidate (n = 101) male infertility genes. After extensive validation, we screened 1,112 idiopathic infertile men with non-obstructive azoospermia or severe oligozoospermia...
November 2017: Human Mutation
https://www.readbyqxmd.com/read/28782868/klinefelter-s-syndrome-and-sexual-offending-a-literature-review
#16
Rebecca O'Donovan, Birgit Völlm
BACKGROUND: Klinefelter's syndrome is a sex chromosome abnormality affecting approximately 1 in 1000 men. There have been suggestions that it is associated with a higher than average prevalence of sexual offending but to what extent does research evidence support this assertion? AIMS: This study aimed to conduct a systematic review of published research to establish the prevalence of sexual offending in men with Klinefelter's syndrome. METHOD: The databases MEDLINE, PsycINFO and EMBASE were searched from inception until 31 December 2016 by using a range of terms for Klinefelter's syndrome and for sexual offending...
August 7, 2017: Criminal Behaviour and Mental Health: CBMH
https://www.readbyqxmd.com/read/28766502/transient-neonatal-diabetes-due-to-a-mutation-in-kcnj11-in-a-child-with-klinefelter-syndrome
#17
Amanda Dahl, Radhika Dhamija, Alaa Al Nofal, Siobhan Pittock, Frederick Schwenk, Seema Kumar
Klinefelter syndrome is the most frequent chromosomal aneuploidy in males occurring in about 1 in 660 males. Epidemiological studies have demonstrated increased risk of type 1 diabetes and type 2 diabetes in adults with Klinefelter syndrome. There is only one previous report of neonatal diabetes in a patient with Klinefelter syndrome. We report transient neonatal diabetes due to a pathogenic heterozygous variant in KCNJ11 in a male infant with Klinefelter syndrome. A 78 day old male infant was noted to have sustained hyperglycemia with serum glucose ranging between 148 mg/dL (8...
August 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28739462/suprageniculate-approach-to-release-of-popliteal-entrapment-without-distal-bypass-despite-preoperative-runoff-thrombosis
#18
Aamna M Ali, Christopher R Ramos, Natalia O Glebova
BACKGROUND: Popliteal artery entrapment syndrome is an uncommon condition in which anatomic or functional popliteal artery compression causes arterial insufficiency. We present a case of popliteal entrapment with runoff thrombosis treated with suprageniculate release of entrapment without distal bypass. RESULTS: A 15-year old boy with Klinefelter syndrome presented with right leg claudication severely limiting his activity. He had a palpable femoral pulse, but no palpable popliteal or foot pulses on the right...
July 21, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28726803/quality-of-life-in-men-with-klinefelter-syndrome-the-impact-of-genotype-health-socioeconomics-and-sexual-function
#19
Anne Skakkebæk, Philip J Moore, Simon Chang, Jens Fedder, Claus H Gravholt
PurposeKlinefelter syndrome (KS) is associated with lower socioeconomic status and greater morbidity. However, relatively little is known about the quality of life for men with KS, or how KS and other factors combine to determine it.MethodsA total of 132 men with KS were recruited in clinics, and 313 matched controls were identified by Statistics Denmark. Demographics, socioeconomic status, health problems and behaviors, sexual function, medical follow-up, and mental and physical quality of life (MQoL and PQoL, respectively) were assessed for all participants through surveys...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726283/vocal-and-gestural-productions-of-24-month-old-children-with-sex-chromosome-trisomies
#20
Laura Zampini, Lara Draghi, Gaia Silibello, Francesca Dall'Ara, Claudia Rigamonti, Chiara Suttora, Paola Zanchi, Nicoletta Salerni, Faustina Lalatta, Paola Vizziello
BACKGROUND: Children with sex chromosome trisomies (SCT) frequently show problems in language development. However, a clear description of the communicative patterns of these children is still lacking. AIMS: To describe the first stages of language development in children with SCT in comparison with those in typically developing (TD) children. The purpose was to verify the existence of possible differences in communicative skills (in both vocal and gestural modality) and identify the presence of possible early predictors (i...
July 20, 2017: International Journal of Language & Communication Disorders
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