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Klinefelter Syndrome

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41. Sperm Retrieval in Patients with Klinefelter Syndrome: A Skewed Regression Model Analysis (Full text)

Sperm Retrieval in Patients with Klinefelter Syndrome: A Skewed Regression Model Analysis The most common chromosomal abnormality due to non-obstructive azoospermia (NOA) is Klinefelter syndrome (KS) which occurs in 1-1.72 out of 500-1000 male infants. The probability of retrieving sperm as the outcome could be asymmetrically different between patients with and without KS, therefore logistic regression analysis is not a well-qualified test for this type of data. This study has been designed

2017 International journal of fertility & sterility PubMed abstract

42. Portal Vein Thrombosis Due to an Increase in Dose of Testosterone in a Young Man with Klinefelter Syndrome (Full text)

Portal Vein Thrombosis Due to an Increase in Dose of Testosterone in a Young Man with Klinefelter Syndrome Klinefelter syndrome (KS) is associated with increased incidence of thrombotic events. Hypofibrinolysis is associated with increased risk of thromboembolism. Although testosterone replacement therapy (TRT) inhibits the hypofibrinolysis, it can still cause thrombosis paradoxically due to increased dose and duration of use. Herein, we present a case of a young male diagnosed with KS who

2017 Cureus PubMed abstract

43. Aberrant ocular architecture and function in patients with Klinefelter syndrome (Full text)

Aberrant ocular architecture and function in patients with Klinefelter syndrome 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

2017 Scientific reports PubMed abstract

44. A case of Klinefelter syndrome with hypersexual desire (Full text)

A case of Klinefelter syndrome with hypersexual desire 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. We present a 44-year-old man with KS who, despite having erectile dysfunction, paradoxically had increased libido. He used sildenafil to overcome his erectile dysfunction. Hypersexuality was manifested by very frequent masturbation, multiple sexual partners most of whom were casual, and a sexual offence conviction at the age of 17 years. Discussion focuses on the frequent failure

2017 Endocrinology, diabetes & metabolism case reports PubMed abstract

45. Hypogonadism Makes Dyslipidemia in Klinefelter's Syndrome (Full text)

Hypogonadism Makes Dyslipidemia in Klinefelter's Syndrome 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

2017 Journal of Korean medical science PubMed abstract

46. Genetic risk of Klinefelter's syndrome in assisted reproductive technology (Full text)

Genetic risk of Klinefelter's syndrome in assisted reproductive technology The main cause of Klinefelter's syndrome (KS) has been believed to be XY sperm. Accordingly, in the intracytoplasmic sperm injection treatment of patients with KS, hereditary KS has been a concern. Therefore, this study attempted to estimate the risk before and after the assisted reproductive technology.First, in order to validate the safety of the gametes of the patients with KS, a fluorescent in situ hybridization

2017 Reproductive Medicine and Biology PubMed abstract

47. Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia (Full text)

Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males. Major cardiovascular and diaphragmatic anomalies are uncommon in this syndrome. Here we report an infant with KS who had tetralogy of Fallot and congenital diaphragmatic hernia, all of which were identified prenatally and managed successfully after birth. Microarray analysis did not reveal any deletions or duplications

2017 Journal of pediatric genetics PubMed abstract

48. Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity (Full text)

Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity Klinefelter syndrome (KS) (47,XXY) is the most common male sex chromosome aneuploidy. Diagnosis and clinical supervision remain a challenge due to varying phenotypic presentation and insufficient characterization of the syndrome. Here we combine health data-driven epidemiology and molecular level systems biology to improve the understanding of KS and the molecular interplay (...) : Identification of co-expressed modules as well as central hubs and gene dosage perturbed protein complexes in a KS comorbidity network build from known disease proteins and their protein-protein interactions. The systems biology approaches together pointed to novel aspects of KS disease phenotypes including perturbed Jak-STAT pathway, dysregulated genes important for disturbed immune system (IL4), energy balance (POMC and LEP) and erythropoietin signalling in KS. We present an extended epidemiological study

2017 Human molecular genetics PubMed abstract

49. Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations? (Full text)

Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations? Klinefelter Syndrome (KS) is the most common chromosomal disorder in men leading to non-obstructive azoospermia. Spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. We evaluated AR variations and polymorphism length in 135 non-mosaic KS patients, aimed to find possible correlation with clinical features, sex (...) substitution. All the Klinefelter patients with AR gene variations were azoospermic. Spermatozoa were retrieved with TESE for two men (40%), sperm retrieval was unsuccessful in other 3 patients. This is the only study reporting AR variations in KS patients. Relevant clinical differences not emerged between AR mutated and not AR mutated KS patients, but does each variation play an important role in the trasmission to the offspring obtained by ART in this patients?

2017 Scientific reports PubMed abstract

50. The Benefits and Limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). (Abstract)

The Benefits and Limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY and investigate potential risks and benefits of prenatal identification.A literature review of NIPT and 47, XXY was performed to identify limitations of current (...) NIPT techniques.As NIPT becomes an increasingly more routine procedure, prenatal findings of 47, XXY may increase. Awareness of this disorder and appropriate genetic counseling is necessary.X and Y chromosomal variations will be identified through this screening, and the benefits and limitations to this finding need to be thoughtfully considered. © 2017 John Wiley & Sons, Ltd.© 2017 John Wiley & Sons, Ltd.

2017 Prenatal diagnosis

51. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. (Full text)

Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. To examine the effects of early low-dose androgen on motor, cognitive, and behavioral function in prepubertal boys with Klinefelter syndrome (47,XXY).Double-blind trial of 84 boys, ages 4-12 years, randomized to oxandrolone (Ox; 0.06?mg/kg daily; n?=?43) or placebo (Pl; n?=?41) for 24 months. Standardized assessments were performed at baseline and every 12 months for 24 months evaluating (...) , and interpersonal problems (P?=?.02) on the Children's Depression Inventory, without significant differences in hyperactive or aggressive behaviors.This double-blind, randomized trial demonstrates that 24 months of childhood low-dose androgen treatment in boys with Klinefelter syndrome benefited 1 of 5 primary endpoints (visual-motor function). Secondary analyses demonstrated positive effects of androgen on aspects of psychosocial function (anxiety, depression, social problems), without significant effects

2017 Journal of Pediatrics Controlled trial quality: predicted high PubMed abstract

52. Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. (Full text)

Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Specific factors underlying successful surgical sperm retrieval rates (SRR) or pregnancy rates (PR) after testicular sperm extraction (TESE) in adult patients with Klinefelter syndrome (KS) have not been completely clarified.The aim of this review was to meta-analyse the currently available data from subjects with KS regarding SRRs as the primary outcome. In addition, when available, PRs and live

2017 Human Reproduction Update PubMed abstract

53. Klinefelter Syndrome

Klinefelter Syndrome Klinefelter Syndrome Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Klinefelter Syndrome Klinefelter Syndrome (...) to testosterone ratio VI. Associated Conditions Mild Motor function delay Language comprehension problems Speech may also be affected s Dyslexia Social maladjustment Mental illness dysfunction disease (20x risk of healthy men) VII. Management: General Complete neurodevelopment evaluation at diagnosis Indicated if diagnosis in childhood surveillance VIII. Management: Testosterone Replacement after age 11 Start Long acting Testosterone 25-50 mg IM q3-4 weeks Increase Testosterone dose by 50 mg q6-9 months Goal

2018 FP Notebook

54. Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells (Full text)

Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells The most common human sex chromosomal disorder is Klinefelter syndrome (KS; 47,XXY). Adult patients with KS display a diverse phenotype but are nearly always infertile, due to testicular degeneration at puberty. To identify mechanisms causing the selective destruction of the seminiferous epithelium, we performed RNA-sequencing of 24 fixed (...) paraffin-embedded testicular tissue samples. Analysis of informative transcriptomes revealed 235 differentially expressed transcripts (DETs) in the adult KS testis showing enrichment of long non-coding RNAs, but surprisingly not of X-chromosomal transcripts. Comparison to 46,XY samples with complete spermatogenesis and Sertoli cell-only-syndrome allowed prediction of the cellular origin of 71 of the DETs. DACH2 and FAM9A were validated by immunohistochemistry and found to mark apparently

2018 Cell death & disease PubMed abstract

55. Skeletal Health of Klinefelter Patients

compared the bone health of KS patients who were actively monitored in our clinic by dual-energy X-ray absorptiometry (DXA) with that of a control group of healthy volunteers. Condition or disease Intervention/treatment Phase Osteoporosis Diagnostic Test: dual-energy X-ray absorptiometry Not Applicable Detailed Description: Klinefelter syndrome (KS) is the most common chromosome number abnormality of men, occurring in 1/500 to 1/1000 live births . It was first described in 1942 as an endocrine disorder (...) -regulated Drug Product: No Studies a U.S. FDA-regulated Device Product: No Keywords provided by Abdullah Demirtas, TC Erciyes University: Klinefelter Osteoporosis dual-energy X-ray absorptiometry Additional relevant MeSH terms: Layout table for MeSH terms Osteoporosis Klinefelter Syndrome Bone Diseases, Metabolic Bone Diseases Musculoskeletal Diseases Metabolic Diseases Sex Chromosome Disorders of Sex Development Disorders of Sex Development Urogenital Abnormalities Sex Chromosome Disorders Chromosome

2018 Clinical Trials

56. A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens? (Full text)

A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens? The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first causing androgen deficiency, the latter leading to androgen excess.We report the 4th case of association of KS and CAH (...) in a young man with CAH with good androgen control and with normal secondary sex characteristics, whose Klinefelter syndrome was diagnosed because of reduced testicular volume. He was the first reported case of association of KS and CAH who started androgen replacement therapy in the pubertal age and whose pubertal development was described and followed up step by step.In a boy with CAH and small testicular volume, it's important to consider that hypogonadism may be masked by the adrenal androgens excess

2018 Italian journal of pediatrics PubMed abstract

57. MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system and thromboembolic disease. Review of literature and clinical perspectives. (Full text)

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system and thromboembolic disease. Review of literature and clinical perspectives. Klinefelter syndrome (KS) is the most frequently occurring sex chromosomal aberration in males, with an incidence of about 1 in 500-700 newborns. Data acquired from large registry-based studies revealed an increase in mortality rates among KS patients when compared with mortality rates among the general population. Among all causes of death (...) , metabolic, cardiovascular, and hemostatic complication seem to play a pivotal role. KS is associated, as are other chromosomal pathologies and genetic diseases, with cardiac congenital anomalies that contribute to the increase in mortality. The aim of the current study was to systematically review the relationships between KS and the cardiovascular system and hemostatic balance. In summary, patients with KS display an increased cardiovascular risk profile, characterized by increased prevalence

2016 European Journal of Endocrinology PubMed abstract

58. Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome (Full text)

Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome Primary Sjögren's syndrome (pSS) has a strong female bias. We evaluated an X chromosome dose effect by analyzing 47,XXY (Klinefelter's syndrome, 1 in 500 live male births) among subjects with pSS. 47,XXY was determined by examination of fluorescence intensity of single nucleotide polymorphisms from the X and Y chromosomes. Among 136 pSS men there were 4 with 47,XXY. This was significantly different from healthy

2016 Clinical immunology (Orlando, Fla.) PubMed abstract

59. Klinefelter Syndrome and Metabolic Disorder (Full text)

Klinefelter Syndrome and Metabolic Disorder 28029025 2018 11 13 2093-596X 31 4 2016 Dec Endocrinology and metabolism (Seoul, Korea) Endocrinol Metab (Seoul) Klinefelter Syndrome and Metabolic Disorder. 535-536 10.3803/EnM.2016.31.4.535 Bae Ji Cheol JC http://orcid.org/0000-0002-4763-5797 Division of Endocrinology and Metabolism, Department of Medicine, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea. drkuri10@gmail.com. eng Editorial Korea (South

2016 Endocrinology and Metabolism PubMed abstract

60. Klinefelter Syndrome and 47,XYY Syndrome in Children With B Cell Acute Lymphoblastic Leukaemia (Full text)

-Lymphoma diagnosis epidemiology etiology therapy Prevalence Sex Chromosome Disorders complications diagnosis epidemiology XYY Karyotype diagnosis epidemiology Young Adult 47,XYY syndrome Klinefelter syndrome SNP analysis acute lymphoblastic leukaemia cytogenetics 2016 05 16 2016 05 31 2016 7 20 6 0 2018 2 23 6 0 2016 7 20 6 0 ppublish 27434379 10.1111/bjh.14258 PMC5247399 NIHMS799677 Lancet. 1980 Apr 5;1(8171):774 6103196 Med Pediatr Oncol. 1997 Jan;28(1):6-8 8950329 Pediatr Hematol Oncol. 2004 Oct-Nov (...) Klinefelter Syndrome and 47,XYY Syndrome in Children With B Cell Acute Lymphoblastic Leukaemia 27434379 2018 02 22 2018 12 01 1365-2141 179 5 2017 12 British journal of haematology Br. J. Haematol. Klinefelter syndrome and 47,XYY syndrome in children with B cell acute lymphoblastic leukaemia. 843-846 10.1111/bjh.14258 Rau Rachel E RE Division of Pediatric Hematology/Oncology, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX. Carroll Andrew J AJ Department of Genetics

2016 British journal of haematology PubMed abstract

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