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Klinefelter Syndrome

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181. Recent developments in the diagnosis of Marfan syndrome and related disorders Full Text available with Trip Pro

-converting enzyme inhibitors and angiotensin-II receptor antagonist drugs have shown varying beneficial effects. Currently, losartan, beta blockers and angiotensin-converting enzyme inhibitors are being evaluated in large randomised clinical trials. Conditions that may be confused with Marfan syndrome A number of other conditions share some features with Marfan syndrome. These include related cardiovascular conditions, such as various forms of familial aortic aneurysm disease, bicuspid aortic valve (...) in an affected person may or may not be the cause of the condition. In assessing this possibility, the following considerations are important: Has the DNA change been seen before in a patient with Marfan syndrome or in members of the patient’s family? What is the frequency of the DNA change in the general population? Variants that are also found in phenotypically normal individuals are unlikely to be causative. Does the DNA change segregate with the disease in the family? A causative mutation should be found

2012 Clinical Practice Guidelines Portal

182. Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries. Full Text available with Trip Pro

Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries. To evaluate psychiatric symptomatology among 1022 persons with various disorders of sex development (DSD).The study was a European multicenter cross-sectional clinical evaluation in six countries (dsd-LIFE). The mean age of participants was 32.1 years (SD 13.4). The cohort consisted of 325 individuals with Turner Syndrome, 219 individuals with Klinefelter syndrome (KS), females with various XY (...) -DSD conditions 107 with and 67 without androgenisation, 87 males with XY-DSD conditions and 221 females with congenital adrenal hyperplasia. The Hospital Anxiety and Depression Scale, the Short Autism Spectrum Quotient, the Adult Attention Deficit Hyperactivity Disorder Self-Report Scale, and self-reported mental health history were used to assess psychiatric symptomatology.Across the six DSD diagnostic groups, clinical cutoff symptom scores were reached in 19.5% of participants for anxiety

2019 Psychosomatic Medicine

183. Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. Full Text available with Trip Pro

Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. The karyotype 49,XXXXY is a rare form of Klinefelter syndrome usually presenting with ambiguous genitalia, facial dysmorphism, mental retardation, and a combination of cardiac, skeletal, and other malformations.We describe a 19-year-old man, whose chromosomal analysis of peripheral blood revealed a karyotype of 49,XXXXY. His mental development and motor ability were significantly delayed. At the age (...) of 19, he had failed to develop secondary sexual characteristics. His random blood glucose level was 19.61 mmol/L, and he showed dry mouth, polydipsia, and polyuria. He had a characteristic facial appearance with prognathism, widened nasal bridge, and strabismus. His bilateral elbow rotation was limited. He had atrophic testes with micropenis. Ophthalmic examination revealed a polar cataract in both eyes.He was diagnosed with Klinefelter syndrome associated with cleft palate, hypothyroidism

2019 Medicine

184. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome. Full Text available with Trip Pro

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome. X-linked dominant chondrodysplasia punctata (CDPX2 or Conradi-Hünermann-Happle syndrome, MIM #302960) is caused by mutations in the EBP gene. Affected female patients present with Blaschkolinear ichthyosis, coarse hair or alopecia, short stature, and normal psychomotor development. The disease is usually lethal in boys. Nevertheless, few male patients have been reported; they carry (...) a somatic mosaicism in EBP or present with Klinefelter syndrome. Here, we report CDPX2 patients belonging to a three-generation family, carrying the splice variant c.301 + 5 G > C in intron 2 of EBP. The grandfather carries the variant as mosaic state and presents with short stature and mild ichthyosis. The mother also presents with short stature and mild ichthyosis and the female fetus with severe limb and vertebrae abnormalities and no skin lesions, with random X inactivation in both. This further

2018 European Journal of Human Genetics

185. Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies. Full Text available with Trip Pro

dimorphism in humans is challenging. Sex chromosome aneuploidies, such as Turner syndrome (X0) and Klinefelter syndrome (XXY), are common genetic conditions in humans. The study of individuals with sex chromosome aneuploidies provides a promising framework for studying sexual dimorphism in neurodevelopmental and psychiatric disorders. Here we will review and contrast four syndromes caused by variation in the number of sex chromosomes: Turner syndrome, Klinefelter syndrome, XYY syndrome, and XXX syndrome (...) . Overall we describe an increased rate of attention-deficit hyperactivity disorder and autism spectrum disorder, along with the increased rates of major depressive disorder and anxiety disorders in one or more of these conditions. In addition to contributing unique insights about sexual dimorphism in neuropsychiatric disorders, awareness of the increased risk of neurodevelopmental and psychiatric disorders in sex chromosome aneuploidies can inform appropriate management of these common genetic

2018 Neuropsychopharmacology

186. Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype Full Text available with Trip Pro

dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11.2 deletion syndrome, Angelman syndrome, Fragile X syndrome, Klinefelter syndrome, Prader-Willi syndrome, Rett syndrome, Smith-Magenis syndrome, Turner syndrome, and Williams syndrome) and shed some light on the specific mechanisms that may underlie these skills in each clinical presentation. We first detail the different processes included in the generic (...) Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive

2018 Frontiers in pediatrics

187. Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study Full Text available with Trip Pro

Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study The knowledge about health status in adults with disorder of sex development (DSD) is scarce.A cross-sectional observational study in 14 European tertiary centers recruited 1040 participants (717 females, 311 males, 12 others) with DSD. Mean age was 32.4 ± 13.6 year (range 16-75). The cohort was divided into: Turner (n = 301), Klinefelter (n = 224), XY-DSD (n = 222), XX-DSD (excluding congenital (...) ). Any disorder except DSD was present in 84.3% (controls 24.6%, P < 0.0001). Males reported worse health than females. In the subgroup analysis, Klinefelter and 46,XX-DSD patients reported bad general health in 15.7% and 16.7%, respectively (Turner 3.2% and CAH 7.4%). Comorbidities were prevalent in all DSD subgroups but Klinefelter and Turner were most affected. Early diagnosis of DSD and a healthy lifestyle were associated with less comorbidities.Overall, general health appeared to be good

2018 Endocrine connections

188. Disorders of sex development: timing of diagnosis and management in a single large tertiary center Full Text available with Trip Pro

recorded from patient charts.Among the 550 DSD patients, 53.3% had 46,XY DSD; 37.1% had sex chromosome DSD and 9.6% had 46,XX DSD. The most common diagnoses were Turner syndrome (19.8%, diagnosed at the mean age of 4.7 ± 5.5 years), Klinefelter syndrome (14.5%, 6.8 ± 6.2 years) and bilateral cryptorchidism (23.1%). Very few patients with 46,XY DSD (7%) or 46,XX DSD (21%) had molecular genetic diagnosis. The yearly rate of DSD diagnoses remained stable over the survey period. After the release (...) of the Nordic consensus on the management of undescended testes, the age at surgery for bilateral cryptorchidism declined significantly (P < 0.001).Our results show that (i) Turner syndrome and Klinefelter syndrome, the most frequent single DSD diagnoses, are still diagnosed relatively late; (ii) a temporal shift was observed in the management of bilateral cryptorchidism, which may favorably influence patients' adulthood semen quality and (iii) next-generation sequencing methods are not fully employed

2018 Endocrine connections

189. Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE). Full Text available with Trip Pro

a country; the overall association between participant satisfaction with the center score was significant.Comparative effectiveness research across Europe can lead to more insight on beneficial structures and processes and the overall strategy to care for people with rare diseases in general and specific conditions such as disorders/ differences of sex development. Appreciation of higher levels of structural quality of the centers in this study supports the concept of comprehensive care.German Clinical (...) -constructed measure (Center Score) and the level of participant satisfaction with care using the customer satisfaction questionnaire (CSQ-4) and an adopted version of the Youth Health Care - Satisfaction, Utilization & Needs (YHC-SUN-SF). Data were obtained from individuals with Turner Syndrome (261), Klinefelter Syndrome (173), 46, XX congenital adrenal hyperplasia (190) and XY-DSD (257).We found large variations between the scores for structural quality of care both within a diagnostic group and within

2018 BMC health services research

190. Gamma heavy-chain disease accompanied with follicular lymphoma: a case report Full Text available with Trip Pro

, and no established guidelines for follow-up are available. We describe a case of a challenging diagnosis of γ-HCD due to the absence of clinical signs frequently reported in the disease (anaemia and palatal oedema among others). Haematological malignancy was the first suspicion but bone marrow examination was negative. In addition, the presence of an autoimmune bicytopenia and a Klinefelter syndrome complicated the clinical context of the patient. A thoracoabdominal computed tomography reported many small (...) Gamma heavy-chain disease accompanied with follicular lymphoma: a case report Heavy chain diseases (HCD) are B-cell lymphoprolipherative disorders characterized by the production of monoclonal heavy chains without associated light chains. Some cases of gamma-HCD (γ-HCD) are concurrent with other lymphoid neoplasm. The monoclonal component is not always detectable by serum electrophoresis, and often an immunofixation procedure is necessary to detect this component. Prognosis is variable

2018 Biochemia medica

191. Shifting syndromes: Sex chromosome variations and intersex classifications Full Text available with Trip Pro

Shifting syndromes: Sex chromosome variations and intersex classifications The 2006 'Consensus statement on management of intersex disorders' recommended moving to a new classification of intersex variations, framed in terms of 'disorders of sex development' or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some (...) individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter's syndromes should be included. This article explores initial descriptions of Turner and Klinefelter's syndromes and their subsequent inclusion in intersex classifications, which were increasingly

2018 Social Studies Of Science

192. Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE) Full Text available with Trip Pro

of the diagnosis on QOL.Three hundred one individuals with Turner Syndrome, 219 with Klinefelter Syndrome (including XYY), 226 with 46,XX CAH and 294 with rare DSD conditions (gonadal dysgenesis, androgen insensitivity syndrome, severe hypospadias, and androgen synthesis errors or other diagnosis) took part. Compared to healthy European populations, QOL was similar in psychological, slightly worse in physical health, and slightly better in environment. In social relationships, QOL was significantly poorer (...) Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE) Previous studies in quality of life (QOL) in individuals with disorders/differences of sex development (DSD) have been restricted to subpopulations of the condition. We describe QOL in adult persons with DSD compared to country specific references and assess the impact of diagnosis.The multicentre

2018 Health and quality of life outcomes

193. Sex-Differences in Reproductive Hormones during Mini-Puberty in Infants with Normal and Disordered Sex Development. Full Text available with Trip Pro

concentrations showed overlap between sexes, with LH being highest in boys and FSH being highest in girls. The LH/FSH ratio separated infant boys from girls with minimal overlap at a cutoff value of 0.32. Inhibin B and AMH concentrations were markedly higher in boys compared with girls, with minimal or no overlap. In infants with Klinefelter syndrome, 45,X/46,XY mosaicism and male phenotype, and Turner syndrome, the LH/FSH ratio matched the gender of rearing. However, infants with complete androgen (...) Sex-Differences in Reproductive Hormones during Mini-Puberty in Infants with Normal and Disordered Sex Development. The early activation of the hypothalamic-pituitary-gonadal axis during infancy can be used in the evaluation of infants suspected of disorders of sex development (DSD). However, few data exist on sex-specific reference ranges for these hormones during early life.To evaluate sex differences in reproductive hormone concentrations in serum from healthy infants to define sex-specific

2018 Journal of Clinical Endocrinology and Metabolism

194. Clinical genetic evaluation in identifying the etiology of the autism spectrum disorders: 2013 guideline revisions

the continuously expanding and evolving list of available laboratory- testing modalities in light of the published literature; (v) recognizing the expanded phenotypes of well-described syndromic and meta- bolic conditions that overlap with autism spectrum disorders; and (vi) defining an individualized evaluation plan based on the unique history and clinical features of a given patient. The guidelines in this paper have been developed to assist the clinician in the consideration of these factors. It updates (...) of such conditions, there is adequate evidence to suggest testing for changes in these genes in patients with ASDs with no other identifiable etiology. These would include fragile X syndrome, methyl-CPG-binding protein 2 (MECP2) spec- trum disorders, and phosphatase and tensin homolog (PTEN)– related conditions. There is a long-standing association of ASDs with fragile X syndrome. Approximately 20% of boys with fragile X syndrome meet diagnostic criteria for ASDs when evaluated by objective criteria. 11,47 Two

2013 American College of Medical Genetics and Genomics

195. Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. (Abstract)

Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. To report a case of Klinefelter syndrome combined with Kartagener syndrome.Case report.Private IVF center.A 35-year-old man with Klinefelter syndrome combined with Kartagener syndrome causing primary infertility.Testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI).Sperm recovery, fertilization, and live birth.Ovulation induction of the female (...) partner, recovery of spermatozoa by TESE from the male partner and ICSI of 9 metaphase II oocytes resulted in two fertilized oocytes. The delivery of a healthy boy with normal anatomy and 46,XY karyotype was achieved after the transfer of only one 4-cell grade 1 embryo.To our knowledge, this case with nonmosaic Klinefelter syndrome combined with Kartagener's syndrome is unique and demonstrates the revolutionary aspects of assisted reproductive technologies (ART) concerning male factor

2011 Fertility and Sterility

196. Medicalization of aging and the testosterone deficiency syndrome

provoked by disorders such as the Klinefelter syndrome or testicular injury, in which there is evi- dence of hypothalamic-pituitary-adrenal axis often with severe health consequences. in these cases, the testosterone supplementation is justified. h owever over the last few years it has been pro- posed that the simple fact of having testosterone below the normal levels, which occurs with the pas- sage of time, provokes a constellation of disorders in men that can be reverted by the administration (...) , the administra- tion of testosterone allows for optimum levels to be reached in disorders such as Klinefelter syndrome (the most frequent cause of hypogonadism). Beyond the reasonable use of testosterone, the extension of Finally, the objective is reached and sales revenues of testosterone preparations grow with no epide- miogical base. in 2001, sales in the uSa were well over 1600 million dollars. 29 in australia every new modification made to the testosterone presentation is accompanied by an increase

2012 Drug and Therapeutics Bulletin of Navarre (Spain)

197. Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature. Full Text available with Trip Pro

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature. Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype (...) and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome.The patient presented with a complex phenotype including a particular cognitive profile with intellectual deficiency and autism spectrum disorder (ASD) with limited interests. Moreover, social anxiety disorder with selective mutism and separation anxiety disorder were observed (DSM-5 criteria, MINI Assessment).It is now admitted that 49,XYYYY has

2017 BMC Medical Genetics

198. Rare 48, XYYY syndrome: case report and review of the literature Full Text available with Trip Pro

Rare 48, XYYY syndrome: case report and review of the literature 48, XYYY syndrome is a rare condition. A male with 32-year-old and three Y chromosomes is described. This syndrome is phenotypically similar to Klinefelter syndrome. In this patient, Semi-Klinefelter characteristics such as tall stature, teeth dysmorphology, long length of fingers, partial deformity of the joints, likewise mental health problems were obvious.

2017 Clinical Case Reports

199. Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population. Full Text available with Trip Pro

conditions were recruited by 14 study centres in 6 European countries (France, Germany, the Netherlands, Poland, Sweden and the United Kingdom) from February 2014 until September 2015. The conditions included were: Turner syndrome (n = 301); 45,X0/46,XY conditions (n = 45); Klinefelter syndrome (n = 218); 47,XYY (n = 1); 46,XY gonadal dysgenesis/ovotestes (n = 63); complete androgen insensitivity (CAIS) (n = 71); partial androgen insensitivity (PAIS) (n = 35) and androgen synthesis disorders (n = 20 (...) ); severe hypospadias (n = 25); other or non-classified 46,XY DSD (n = 8); 46,XX congenital adrenal hyperplasia (CAH) (n = 226); 46,XX gonadal dysgenesis/ovotestis (n = 21); and 46,XX in males (n = 6). For an add-on study, 121 46,XY male-assigned individuals with CAH due to 21-hydroxylase deficiency were recruited. Mean age of participants' was 32.4 (+/- 13.6 years).Participation was high in conditions not commonly described as DSD, such as Turner and Klinefelter syndromes or CAH. Recruitment

2017 BMC Endocrine Disorders

200. Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study. Full Text available with Trip Pro

males are rare and estimates of prevalence and incidence are limited. An increased morbidity and mortality as well as a negatively affected socioeconomic status are described in males with Klinefelter Syndrome. However, this has never been systematically studied in 46,XX DSD males.In this nationwide registry study including 44 males with a verified diagnosis of 46,XX DSD we aimed to estimate incidence, prevalence and diagnostic delay. Further, we aimed to study morbidity, mortality and socioeconomic (...) Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study. What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)?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.46,XX DSD

2017 Human Reproduction

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