<scp>K</scp>linefelter Syndrome

Simpson, Joe Leigh; Graham, John M.; Samango‐Sprouse, Carole; Swerdloff, Ronald S.

doi:10.1002/0471695998.mgs028

Cited by 7 publications

(6 citation statements)

References 66 publications

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“…Intention tremor was less frequent, although present in 50% of 47,XYY and 57% of 47,XXY 15. Based on these studies, tremor may be a common feature in the phenotype of males with sex chromosome aneuploidy, yet is often not included in clinical descriptions of these genetic syndromes 16–18…”

Section: Discussionmentioning

confidence: 99%

Tremor in 48,XXYY syndrome

2009

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The 48,XXYY syndrome is a form of sex chromosome aneuploidy presenting in 1:18,000 males. Tremor has been previously reported in 47,XXY and 47,XYY syndromes, but has not been well described in 48,XXYY syndrome. Ten males with 48,XXYY syndrome had a standardized neurological examination and videotaping, which included the Clinical Rating Scale for Tremor and the International Cooperative Ataxia Rating Scale. All 10 cases had postural and kinetic tremor on physical examination. Other findings included mild gait ataxia, dysarthria, and nystagmus. Three cases are reviewed. Tremor is a common finding in children and young adults with 48,XXYY syndrome. Dosage alteration of genes on the sex chromosomes may be involved in the pathogenesis of this tremor. Karyotyping should be considered in individuals presenting with tremor and a history of developmental delay, learning disabilities, tall stature, or micro-orchidism.

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Section: Discussionmentioning

confidence: 99%

Tremor in 48,XXYY syndrome

2009

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“…Current recommendations include initiation of testosterone therapy following practice standards established for 47,XXY (2,7). However, these recommendations vary considerably between sources, from those suggesting initiation of therapy at 11–12 years of age, (22,23) starting in mid‐adolescence (24) or using elevated LH and/or low testosterone levels to determine timing for the initiation of therapy (17,25). Thus, additional studies are necessary to determine appropriate timing of testosterone therapy with respect to pubertal changes, bone density, motor development and psychological development.…”

Section: Clinical Featuresmentioning

confidence: 99%

48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

et al. 2011

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Sex chromosome tetrasomy and pentasomy conditions occur in 1:18 000–1:100 000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. Future research should focus on genotype–phenotype relationships and the development of evidence-based treatments. Conclusion The more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important; however, all of these conditions share features of hypergonadotropic hypogonadism and the need for increased awareness, biomedical research and the development of evidence-based treatments.

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“…Endocrinology consultation should be obtained upon diagnosis to inform parents and patients about options and timing of androgen treatments and updated practices in the treatment of hypogonadism and infertility [see reviews Simpson et al, 2005; Richmond and Rogol, 2007]. If hypogonadism is present, testosterone treatment should be considered in all individuals regardless of cognitive abilities due to positive effects on bone health, muscle strength, fatigue, and endurance, with possible mental health/behavioral benefits as well.…”

Section: Treatment Recommendationsmentioning

confidence: 99%

Surface modification of PCL‐TCP scaffolds improve interfacial mechanical interlock and enhance early bone formation: An in vitro and in vivo characterization

Yeo

Wong

Khoo

et al. 2009

J Biomedical Materials Res

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Pretreatment of polycaprolactone-20% tricalcium phosphate (PCL-TCP) scaffolds under alkaline conditions can be utilized to alter surface characteristics for enhanced early bone formation. PCL-TCP scaffolds were treated with sodium hydroxide (NaOH) at various time intervals (group A: untreated, group B: 3M NaOH for 48 h, and group C: 3M NaOH for 96 h). In vitro results showed a greater degree of physical changes in the NaOH-treated scaffolds (B and C) than the untreated group (A). Clearly, the NaOH-treated scaffolds showed an increased surface roughness than the untreated ones. A significantly large number of "channel-like" pits and greater average pit sizes were detected in groups B (14.51 +/- 10.9 microm) and C (20.27 +/- 14.3 microm); and absent in group A. In addition, treated scaffolds had a significant reduction of the water contact angle (40.9-58.2%). Favorably, the pore dimensions and scaffold rod thickness remained unchanged throughout the experiment. When implanted in the calvaria of rabbits, NaOH-treated scaffolds reported greater early matrix deposition and bone formation from scanning electron images and Micro-computed tomography analyses. In conclusion, pretreatment of PCL-TCP scaffolds with NaOH increases the wettability and surface area for initial matrix deposition and early bone ingrowth.

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Klinefelter Syndrome

Cited by 7 publications

References 66 publications

Tremor in 48,XXYY syndrome

Tremor in 48,XXYY syndrome

48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

Surface modification of PCL‐TCP scaffolds improve interfacial mechanical interlock and enhance early bone formation: An in vitro and in vivo characterization

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