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Klinefelter Syndrome

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101. Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. (Full text)

Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. To characterize associations among psychosocial well-being, physical phenotype, and sex hormones in a sample of youth with Klinefelter syndrome (KS). We hypothesized that KS physical traits (phenotype) are associated with adverse psychosocial health measures and that testosterone levels are associated with adverse psychosocial health.Forty-three boys with KS (ages 8-18 years) participated in a cross-sectional study (...) . Participants underwent physical examination, hormone analyses, and psychosocial health questionnaires.Using an investigator-developed Klinefelter Phenotype Index Scale, the number of KS physical traits ranged from 1-13 (mean 5.1 ± 1.9). Pubertal boys presented with more KS traits compared with prepubertal boys (5.6 vs 4.2, P = .01). Boys diagnosed prenatally had a milder phenotype compared with those diagnosed postnatally. Gonadotropins were elevated without androgen deficiency in 45%. Psychosocial health

2015 Journal of Pediatrics PubMed abstract

102. Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13 (Full text)

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13 Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG). The majority of AS cases (70%) are caused by a 15q11.2-q13 deletion (...) on the maternally derived chromosome. The frequency of AS has been estimated to be between 1/10000 and 1/20000. Klinefelter syndrome (KS) occurs due to the presence of an extra X chromosome (karyotype 47,XXY). The main features in KS are small testes, hypergonadotropic hypogonadism, gynecomastia, learning difficulties, and infertility. We present what is, to our knowledge, the first case of a patient with both KS and AS due to a 15q11.2-q13 deletion on the maternally derived chromosome and an extra X chromosome

2014 Case Reports in Genetics PubMed abstract

103. Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients. (Abstract)

Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients. To determine whether men with Klinefelter syndrome (KS) have the same phenotype as men with mosaic KS.Subject identification via prospectively collected database.Male infertility specialty clinic.Men undergoing a fertility evaluation from 2005 to 2012 at a single male infertility specialty clinic and having a karyotype demonstrating KS (mosaic or non-mosaic).None.Testicular size, and semen

2014 Fertility and Sterility

104. Klinefelter's syndrome diagnosis and management

Klinefelter's syndrome diagnosis and management Australian Clinical Practice Guidelines Toggle navigation Welcome to Australian Clinical Practice Guidelines An initiative of the NHMRC Looking for a clinical practice guideline? The Guidelines Portal provides a single entry point for access to clinical practice guidelines developed for use in Australian health care settings Developing a clinical practice guideline? Consider sharing information about your guideline in development by registering

2010 Clinical Practice Guidelines Portal

105. Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain (Full text)

Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain Klinefelter syndrome (KS) is the most common sex-chromosome aneuploidy in humans. Most affected individuals carry one extra X-chromosome (47,XXY karyotype) and the condition presents with a heterogeneous mix of reproductive, physical and psychiatric phenotypes. Although the mechanism(s) by which the supernumerary X-chromosome determines these features of KS are poorly understood, skewed X

2014 Epigenetics PubMed abstract

106. Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome (Full text)

Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy in men and is characterized by the presence of an additional X chromosome (XXY). In some Klinefelter males, certain traits may be feminized or shifted from the male-typical pattern towards a more female-typical one. Among them might be partner choice, one of the most sexually dimorphic traits in the animal kingdom. We investigated

2014 Archives of Sexual Behavior PubMed abstract

107. Influence of the X-Chromosome on Neuroanatomy: Evidence from Turner and Klinefelter Syndromes (Full text)

are missing one X-chromosome (45X), and Klinefelter syndrome (KS), where males have an additional X-chromosome (47XXY). As these disorders essentially represent copy number variants of the sex chromosomes, investigation of brain structure across these disorders allows us to determine whether sex chromosome gene dosage effects exist. We used voxel-based morphometry to investigate this hypothesis in a large sample of children in early puberty, to compare regional gray matter volumes among individuals (...) Influence of the X-Chromosome on Neuroanatomy: Evidence from Turner and Klinefelter Syndromes Studies of sex effects on neurodevelopment have traditionally focused on animal models investigating hormonal influences on brain anatomy. However, more recent evidence suggests that sex chromosomes may also have direct upstream effects that act independently of hormones. Sex chromosome aneuploidies provide ideal models to examine this framework in humans, including Turner syndrome (TS), where females

2014 The Journal of Neuroscience PubMed abstract

108. Factors associated with adaptation to Klinefelter syndrome: The experience of adolescents and adults (Full text)

Factors associated with adaptation to Klinefelter syndrome: The experience of adolescents and adults The purpose of this study was to understand the impact of living with Klinefelter syndrome (XXY) as an adolescent or an adult and to examine the factors that contribute to adaptation.Individuals (n = 310) aged 14-75 years with self-reported XXY were recruited from online support networks to complete a self-administered survey. Perceived consequences, perceived severity, perceived stigma

2014 Patient education and counseling PubMed abstract

109. The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome. (Full text)

The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome. Klinefelter syndrome (47, XXY) is the most frequent genetic cause of male infertility and individuals share the endocrine hallmark of hypergonadotropic hypogonadism. Single-nucleotide polymorphisms located within the FSHB/FSHR gene were recently shown to impact serum follicle-stimulating hormone (FSH) levels and other reproductive parameters in men. The objective (...) nor reproductive parameters. In conclusion, a hypergonadotropic setting such as Klinefelter syndrome does not mask the FSHB -211G>T genotype effects on the follicle-stimulating hormone serum levels. The impact was indeed more pronounced compared with normal or infertile men, whereas gonadotropin suppression under testosterone treatment seems to be independent of the genotype. Thus, the FSHB -211G>T genotype is a key determinant in the regulation of gonadotropins in different reproductive-endocrine

2014 European Journal of Human Genetics PubMed abstract

110. Expression patterns of DLK1 and INSL3 identify stages of Leydig cell differentiation during normal development and in testicular pathologies, including testicular cancer and Klinefelter syndrome. (Full text)

Expression patterns of DLK1 and INSL3 identify stages of Leydig cell differentiation during normal development and in testicular pathologies, including testicular cancer and Klinefelter syndrome. What is the differentiation stage of human testicular interstitial cells, in particular Leydig cells (LC), within micronodules found in patients with infertility, testicular cancer and Klinefelter syndrome?The Leydig- and peritubular-cell populations in testes with dysgenesis contain an increased (...) human specimens and in 58 adult testis samples from patients with testicular germ cell tumours, including precursor carcinoma in situ (CIS), infertility or Klinefelter syndrome.The expression patterns of DLK1, INSL3, chicken ovalbumin upstream promoter transcription factor 2 (COUP-TFII), cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1) and smooth muscle actin (SMA) were investigated by immunohistochemistry and quantitative RT-PCR. The percentage of positive LCs was estimated

2014 Human Reproduction PubMed abstract

111. A prospective study of testicular sperm extraction in young versus adult patients with non-mosaic 47,XXY Klinefelter syndrome. Preliminary results. (Full text)

A prospective study of testicular sperm extraction in young versus adult patients with non-mosaic 47,XXY Klinefelter syndrome. Preliminary results. Testicular sperm extraction (TESE) in adult patients with nonmosaic 47,XXY provides a sperm retrieval rate (SRR) of approximately 50%. Age is the only significant prognostic factor. Whether TESE should be performed in adolescent patients for sperm cryopreservation remains to be determined.The objective of the study was to compare SRR between young (...) TESE, and 23.7 ± 7.4 in the 18 cases of negative TESE, the difference being nonsignificant (P = .42). SRR was 9/17 = 52.9% for patients with and 14/24 = 59.1% for patients without previous testosterone (T) treatment, the difference being nonsignificant (P = .98).According to the present results, performing TESE at a younger age (15-23 y) in patients with azoospermic nonmosaic 47,XXY Klinefelter did not increase SRR relative to adult patients (25-39 y). Previous replacement treatment with moderate

2014 Journal of Clinical Endocrinology and Metabolism PubMed abstract

112. Management of Klinefelter syndrome during transition. (Full text)

Management of Klinefelter syndrome during transition. Klinefelter syndrome (KS) is the most common sex chromosomal disorder in males. Key findings in older adolescents and young men are small testes with variable hypo-androgenism, but almost universal azoospermia, most frequently in combination with a history of learning difficulties and behavior problems. Males with KS may come to medical attention through different medical presentations, given its association with several congenital (...) malformations, and psychiatric, endocrine, and metabolic disorders. Preventive care is to be provided from diagnosis, preferentially through a multidisciplinary approach, including that from an endocrinologist, clinical psychologist or psychiatrist, neurologist, urologist, geneticist, sexologist, and a fertility team. Accurate information about the condition and assessment of associated medical conditions should be offered at diagnosis and should be followed by psychological counseling. Medical treatment

2014 European Journal of Endocrinology PubMed abstract

113. Reproductive outcomes in patients with male infertility because of Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia fibrous sheath, and 'stump' tail sperm: an updated literature review. (Abstract)

Reproductive outcomes in patients with male infertility because of Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia fibrous sheath, and 'stump' tail sperm: an updated literature review. To describe the reproductive outcomes of a heterogeneous group of male infertility conditions causing severe alterations in the sperm parameters (counts, motility, and morphology) because of chromosomal, genetic, or still unknown causes. Source of sperm, fertilization, pregnancy, live (...) birth, and miscarriage rates of patients with Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia of the fibrous sheath (DFS), and stump-tail sperm were reviewed.There are differences in the outcome according to the conditions and the source of sperm (ejaculated versus testicular). Klinefelter's syndrome patients have better reproductive outcomes when sperm is present in the ejaculate. Kartagener's syndrome shows better fertilization when testicular sperm is used; however

2013 Current Opinion in Obstetrics and Gynecology

114. Klinefelter Syndrome (Follow-up)

: , , , Disclosure: Nothing to disclose. What would you like to print? What would you like to print? Sections Klinefelter Syndrome Find Us On About Membership WebMD Network Editions All material on this website is protected by copyright, Copyright © 1994-2019 by WebMD LLC. This website also contains material copyrighted by 3rd parties. Close encoded search term (Klinefelter Syndrome) and Klinefelter Syndrome What to Read Next on Medscape Related Conditions and Diseases Medscape Consult News & Perspective Tools (...) . [ ] Other neoplasias, occurring in 1.6% of patients, include , and , , and other myeloproliferative diseases. Gonadal and extragonadal germ cell tumors (mediastinal germ cell tumors, teratoma, teratocarcinoma, choriocarcinoma) may also occur. Psychological and psychiatric complications may occur in 47,XXY men with lower-than-average intelligence, hypogonadism, or impotence. The results of one study found that patients with Klinefelter syndrome are at elevated risk for psychopathologies such as autism

2014 eMedicine Pediatrics

115. Klinefelter Syndrome (Overview)

parties. Close encoded search term (Klinefelter Syndrome) and Klinefelter Syndrome What to Read Next on Medscape Related Conditions and Diseases Medscape Consult News & Perspective Tools Slideshow Most Popular Articles According to Pediatricians Recommended 2002 922038-overview Diseases & Conditions Diseases & Conditions 2002 122824-overview Diseases & Conditions Diseases & Conditions 2010 androxal-enclomiphene-1000052 Drugs Drugs 2001 /viewarticle/910920 News News Need a Curbside Consult? Share cases (...) Updated: Feb 25, 2018 Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, FAAP, FACMG Share Email Print Feedback Close Sections Sections Klinefelter Syndrome Overview Practice Essentials In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. [ ] The etiology was thought to be due to an endocrine disorder of unknown cause

2014 eMedicine Pediatrics

116. Klinefelter Syndrome (Treatment)

, Copyright © 1994-2019 by WebMD LLC. This website also contains material copyrighted by 3rd parties. Close encoded search term (Klinefelter Syndrome) and Klinefelter Syndrome What to Read Next on Medscape Related Conditions and Diseases Medscape Consult News & Perspective Tools Slideshow Most Popular Articles According to Pediatricians Recommended 2002 922038-overview Diseases & Conditions Diseases & Conditions 2002 122824-overview Diseases & Conditions Diseases & Conditions 2010 androxal-enclomiphene (...) , and behavior; and protect against precocious osteoporosis. In addition, there are the long-term beneficial effects of decreasing the risks of autoimmune disease and breast cancer. However, testosterone therapy does not treat infertility or gynecomastia. [ ] A study by Samango-Sprouse et al suggested that early hormonal therapy (EHT) can improve social behavior in boys with Klinefelter syndrome. The study participants were boys diagnosed prenatally with 47,XXY. Twenty-nine young boys each received three

2014 eMedicine Pediatrics

117. Klinefelter Syndrome (Diagnosis)

parties. Close encoded search term (Klinefelter Syndrome) and Klinefelter Syndrome What to Read Next on Medscape Related Conditions and Diseases Medscape Consult News & Perspective Tools Slideshow Most Popular Articles According to Pediatricians Recommended 2002 922038-overview Diseases & Conditions Diseases & Conditions 2002 122824-overview Diseases & Conditions Diseases & Conditions 2010 androxal-enclomiphene-1000052 Drugs Drugs 2001 /viewarticle/910920 News News Need a Curbside Consult? Share cases (...) Updated: Feb 25, 2018 Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, FAAP, FACMG Share Email Print Feedback Close Sections Sections Klinefelter Syndrome Overview Practice Essentials In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. [ ] The etiology was thought to be due to an endocrine disorder of unknown cause

2014 eMedicine Pediatrics

118. Testicular sperm sampling by subcapsular orchiectomy in Klinefelter patients: A new simplified treatment approach. (Full text)

Testicular sperm sampling by subcapsular orchiectomy in Klinefelter patients: A new simplified treatment approach. To evaluate subcapsular orchiectomy as a method to retrieve spermatozoa from minute testicular foci in men with Klinefelter syndrome (KS).Fourteen men with KS were consecutively recruited to unilateral subcapsular orchiectomy. Testicular tissue was dissected mechanically and enzymatically to identify possible sperm. Previous testosterone replacement therapy was interrupted for 10

2015 Urology PubMed abstract

119. Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome

and elucidation of methylation and expression profile of pivotal X-chromosomal genes. These will be related to clinically relevant metabolic and inflammatory patterns as well as fertility to identify individual risks as well as treatment strategies for Klinefelter patients. Condition or disease Klinefelter Syndrome, Hypogonadism Study Design Go to Layout table for study information Study Type : Observational Actual Enrollment : 300 participants Observational Model: Case Control Time Perspective: Prospective (...) factors Gonadal status Gene expression Methylation Additional relevant MeSH terms: Layout table for MeSH terms Syndrome Hypogonadism Klinefelter Syndrome Disease Pathologic Processes Gonadal Disorders Endocrine System Diseases Sex Chromosome Disorders of Sex Development Disorders of Sex Development Urogenital Abnormalities Sex Chromosome Disorders Chromosome Disorders Congenital Abnormalities Genetic Diseases, Inborn

2012 Clinical Trials

120. Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease (Full text)

Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease Kennedy's disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed. Klinefelter's syndrome is a variation of sex chromosome disorder characterized by hypogonadism, gynecomastia and azoospermia, and the most frequent karyotype is XXY. A 55-year-old man who presented with slowly (...) progressive and diffuse neurogenic muscle atrophy without bulbar or sensory symptoms. He also had Klinefelter's syndrome. Genetic study of Kennedy's disease was normal. Our patient differs from those with Kennedy's disease in the absence of bulbar and sensory symptoms. It is suggested that the X chromosome plays an important role in the biology of motor neurons.

2012 Annals of Indian Academy of Neurology PubMed abstract

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