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Genetic risk of Klinefelter'ssyndrome in assisted reproductive technology The main cause of Klinefelter'ssyndrome (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
Is there any clinical relevant difference between non mosaic KlinefelterSyndrome patients with or without Androgen Receptor variations? KlinefelterSyndrome (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?
KlinefelterSyndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia Klinefeltersyndrome (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
Hypogonadism Makes Dyslipidemia in Klinefelter'sSyndromeKlinefelter'ssyndrome (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 case of Klinefeltersyndrome with hypersexual desire Klinefeltersyndrome (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 clinicians to diagnose KS, the neurocognitive, behavioural and psychiatric aspects of KS, this unusual presentation of hypersexuality in a man with KS, and the challenges of medical management of hypogonadism in a man with a history of a sexual offence.Klinefelter syndrome (KS) is common in men (about 1 in 600 males), but the diagnosis is very often missed.In addition to classic features of hypogonadism, patients with KS can often have associated neurocognitive, behavioural and/or psychiatric
Aberrant ocular architecture and function in patients with KlinefeltersyndromeKlinefelterSyndrome (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
Therapy of endocrine disease: Testicular function and fertility in men with Klinefeltersyndrome: a review. Klinefeltersyndrome, 47,XXY (KS), is the most frequent sex chromosome aberration in males, affecting 1 in 660 newborn boys. The syndrome is characterized by testicular destruction with extensive fibrosis and hyalinization of the seminiferous tubules resulting in small testes, hypergonadotropic hypogonadism, and azoospermia in the majority of cases. Until recently, infertility
Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with KlinefelterSyndrome. To examine the effects of early low-dose androgen on motor, cognitive, and behavioral function in prepubertal boys with Klinefeltersyndrome (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 Klinefeltersyndrome 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
KlinefelterSyndrome 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. Klinefeltersyndrome 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 (...) States U10 CA180899 CA NCI NIH HHS United States U10 CA180886 CA NCI NIH HHS United States P50 GM115279 GM NIGMS NIH HHS United States Case Reports Letter Research Support, N.I.H., Extramural Review 2016 07 19 England Br J Haematol 0372544 0007-1048 47, XYY syndrome IM Antineoplastic Combined Chemotherapy Protocols adverse effects therapeutic use Humans Karyotyping KlinefelterSyndrome complications diagnosis epidemiology Male Polymorphism, Single Nucleotide Precursor B-Cell Lymphoblastic Leukemia
Klinefelter'ssyndrome (47,XXY) is in excess among men with SjÃ¶gren's syndrome Primary Sjögren's syndrome (pSS) has a strong female bias. We evaluated an X chromosome dose effect by analyzing 47,XXY (Klinefelter'ssyndrome, 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
Angioimmunoblastic T-Cell Lymphoma in a Patient with KlinefelterSyndrome BACKGROUND Although patients with Klinefeltersyndrome have elevated risk and incidence rates for several solid cancers, reports on the incidence of hematological malignancies have been equivocal. CASE REPORT We report a patient diagnosed with angioimmunoblastic T-cell lymphoma in whom Klinefeltersyndrome was newly detected. Moreover, we discuss the development of a variety of lymphomas in patients with Klinefelter (...) syndrome. CONCLUSIONS This is the first case describing angioimmunoblastic T-cell lymphoma in a patient with Klinefeltersyndrome who was treated with chemotherapy.
Adolescent Klinefeltersyndrome: is there an advantage to testis tissue harvesting or not? It is currently unclear whether an adolescent with 47,XXY Klinefeltersyndrome will be better off having testicular sperm extraction (TESE) performed in an effort to 'preserve fertility' for the future or, alternatively, should be advised to simply wait until adulthood when he and his partner are ready to begin a family. This report will provide data suggesting that there is no obvious 'preservation
Advances in the interdisciplinary care of children with Klinefeltersyndrome 27426894 2018 01 25 2019 01 09 1878-1926 63 1 2016 08 Advances in pediatrics Adv Pediatr Advances in the Interdisciplinary Care of Children with KlinefelterSyndrome. 15-46 10.1016/j.yapd.2016.04.020 S0065-3101(16)30020-2 Davis Shanlee S Department of Pediatrics, University of Colorado School of Medicine, 13123 East 16th Avenue, Aurora, CO 80045, USA; Department of Endocrinology, Children's Hospital Colorado (...) Genetic Counseling Humans KlinefelterSyndrome diagnosis epidemiology genetics Language Development Disorders etiology Male Mosaicism Phenotype Polymorphism, Genetic Puberty Speech Disorders etiology Testis abnormalities Truth Disclosure X Chromosome Inactivation 47,XXY Klinefeltersyndrome Sex chromosome aneuploidy 2016 7 19 6 0 2016 7 19 6 0 2018 1 26 6 0 ppublish 27426894 S0065-3101(16)30020-2 10.1016/j.yapd.2016.04.020 PMC5340500 NIHMS776752 J Endocrinol Invest. 2010 Dec;33(11):789-93 20332707
Klinefeltersyndrome (KS): genetics, clinical phenotype and hypogonadism KlinefelterSyndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects as well as on the KS, patients
Gonadal Function is Associated with Cardiometabolic Health in Prepubertal Boys with KlinefelterSyndrome The most common sex chromosome aneuploidy, Klinefeltersyndrome (KS), is associated with primary gonadal failure and increased morbidity and mortality from cardiometabolic disorders in adulthood. Children with KS also have a high prevalence of metabolic syndrome (MetS) features. To assess the relationship of gonadal and cardiometabolic function in children with KS, we evaluated serum (...) hormones [gonadotropins, inhibin B (INHB), anti-mullerian hormone (AMH), total testosterone (TT)], and features of MetS (waist circumference, fasting lipid panel, fasting blood glucose (FBG), and blood pressure) in 93 pre-pubertal boys with KS age 4-12 years (mean 7.7 ± 2.5 years). The cohort was grouped by age and tanner stage, and biomarkers were compared to normal ranges. A total of 80% of this pre-pubertal cohort had ≥1 feature of metabolic syndrome (MetS) and 11% had ≥3 features of MetS. Risk
KlinefelterSyndrome with Poor Risk Extragonadal Germ Cell Tumor Germ cell tumors are the most common malignancy in men aged 15-35 years old, with a small percentage presenting in an extragonadal location. These tumors are seldom identified in the gastrointestinal tract. There is increased risk of extragonadal germ cell tumors (EGCT) in men with Klinefeltersyndrome (KS). We report a rare case of a 37-year-old male with KS and EGCT discovered in the duodenum and pelvis. After treatment (...) with Bleomycin-Etoposide-Cisplatin (BEP), he developed growing teratoma syndrome (GTS) and myelodysplasia. Despite surgical excision of the pelvic growing teratoma, he unfortunately died secondary to complications of severe bone marrow suppression.
Cardiometabolic Profiles of Boys With KlinefelterSyndrome Cardiometabolic Profiles of Boys With KlinefelterSyndrome - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Cardiometabolic Profiles of Boys (...) With KlinefelterSyndrome The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT02723305 Recruitment Status : Active, not recruiting First Posted : March 30, 2016 Last Update Posted : January 30, 2019 Sponsor: University of Colorado, Denver Information provided by (Responsible Party): University of Colorado, Denver
Combination of KlinefelterSyndrome and Acromegaly: A Rare Case Report. Klinefeltersyndrome (KS) is the most common chromosomal aneuploidy in male population, which demonstrates an unusual association with acromegaly. We herein present a rare case involving the confirmation of KS 2 years after surgical treatment for acromegaly.A 27-year-old man presented with an acromegalic appearance. Endocrinological examination revealed a high growth hormone (GH) concentration, low testosterone (...) suppressed by the GH glucose suppression test. In this consideration, he was referred for postoperative somatostatin analogue treatment to control GH hypersecretion.The misdiagnosis or delayed diagnosis of KS is mainly because of substantial variations in clinical presentation and insufficient professional awareness of the syndrome itself. As the simultaneous occurrence of KS and acromegaly is rare, and the association between them remains unclear, we suggest that complete pituitary hormonal screening
Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefeltersyndrome Mature sperm cells can be found in testicular specimens extracted from azoospermic men with non-mosaic Klinefeltersyndrome (KS). The present study evaluates the expression of various known molecular markers of spermatogenesis in a population of men with KS and assesses the ability of those markers to predict spermatogenesis.Two groups of men with non (...) -obstructive azoospermia who underwent testicular sperm-retrieval procedures were included in the study: 31 had non-mosaic KS (KS group) and 91 had normal karyotype (NK group). Each group was subdivided into mixed atrophy (containing some mature sperm cells) or Sertoli cell only syndrome according to testicular histology and cytology observations. Semi-quantitative histological morphometric analysis (interstitial hyperplasia and hyalinization, tubules with cells and abnormal thickness of the basement
Early onset of puberty in an obese boy with KlinefeltersyndromeKlinefeltersyndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty and hypergonadotropic hypogonadism. However, it has been known that they have a broad spectrum of phenotype ranging from almost normal external appearances to typical phenotype