Rare Association of Sensorimotor Polyneuropathy and Klinefelter Syndrome (47,XXY): Case Report

Kararizou, Evangelia; Mentis, Alexios‐Fotios A.; Gkiatas, Konstantinos; Davaki, Panagiota

doi:10.1159/000328423

Cited by 4 publications

(4 citation statements)

References 26 publications

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“…Previous reports have described only two cases of Klinefelter syndrome accompanied by neuropathy (Table) (6,7), probably due to testosterone deficiency. A previous report showed that the extra copies of the X chromosome disturb testosterone synthesis, reducing the number of NOS-containing nerve fibers and hampering the nerve functions (8).…”

Section: Discussionmentioning

confidence: 90%

A Rare Case of Klinefelter Syndrome Accompanied by Spastic Paraplegia and Peripheral Neuropathy

et al. 2019

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Klinefelter syndrome is a chromosomal disorder with a typical karyotype of 47, XXY, accompanied by various neurological symptoms. We herein report the first case of Klinefelter syndrome with a rare mosaic form of 47, XXY and 48, XXXY, combined with both spastic paraplegia and peripheral motor neuropathy. This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities. A motor nerve conduction study and the magnetic motor evoked potential suggested motor axonal neuropathy and corticospinal tract disorders. The present case suggests that Klinefelter syndrome can present with both upper and lower motor neuron degeneration.

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Section: Discussionmentioning

confidence: 90%

A Rare Case of Klinefelter Syndrome Accompanied by Spastic Paraplegia and Peripheral Neuropathy

et al. 2019

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“…In our case, too, there was no clinical or electromyographic evidence for a peripheral neuropathy. The link between Klinefelter syndrome and spastic paraparesis remains rare, as for the link between Klinefelter syndrome and peripheral neuropathy [ 10 , 11 , 13 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome

Adams,

De Bleecker

2024

BMC Neurol

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Report The rare association of Klinefelter syndrome and the clinical presentation of a late onset chronic progressive spastic paresis. Clinical Presentation and Genetics An infertile, 61-year-old man, presented with late adult onset of gait problems, deep muscle pain, and bladder problems. He presented for the first time, years after onset with a spastic paraparesis with high arched feet. His parents had already died, but the patient described high arched feet with his mother. There is no further certain information about the parents. After thorough investigation, an additional X chromosome was found, whereafter the diagnosis of Klinefelter syndrome could be made. Other acquired and genetic causes for spastic paraparesis or hereditary motor neuropathy are excluded. Conclusion This rare case, together with three other literature reports by Sasaki (Intern Med 58(3):437–440, 2019), Sajra (Med Arh 61(1):52–53, 2007) and Matsubara et al., (J Neurol Neurosurg Psychiatry 57(5):640–642, 1994). suggests that Klinefelter syndrome can be associated with spastic paraparesis, besides the other various neuropsychiatric symptoms that are more commonly described.

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“…There are reports which support this hypothesis, e.g., Hainstock et al reported on postural orthostatic tachycardia syndrome (POTS) in a teenager with KS (43) and indeed sympathetic denervation of the lower extremities is a leading theory as cause for POTS (44). Moreover, there are several case reports in the literature of nervous system involvement in KS (45)(46)(47)(48). Potential causes of neuropathy in KS may be testosterone deficiency, diabetes mellitus and thyroid dysfunction (8,10,49).…”

Section: Discussionmentioning

confidence: 99%

Cardiorespiratory fitness in adolescents and young adults with Klinefelter syndrome – a pilot study

et al. 2023

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BackgroundKlinefelter syndrome (KS) may be associated with a wide spectrum of phenotypic changes including endocrine, metabolic, cognitive, psychiatric and cardiorespiratory pathologies in adults. However, in adolescence the clinical phenotype of KS is not well described, especially regarding physical fitness. The present study reports on cardiorespiratory function in adolescents and young adults with KS.MethodsAdolescents and young adults with KS were recruited in a cross-sectional pilot study. Biochemical parameters of fitness including hormonal status, a body impedance analysis, the grip strength, the amount of physical activity at home for 5 days via trackbands and anamnestic parameters were assessed. In addition, participants underwent an incremental symptom-limited cardiopulmonary exercise test (CPET) on a bicycle ergometer.ResultsNineteen participants with KS aged 15.90 ± 4.12 years (range: 9.00 - 25.00) participated in the study. Pubertal status was Tanner 1 (n = 2), Tanner 2 - 4 (n = 7) and Tanner 5 (n = 10). Seven participants received testosterone replacement therapy. Mean BMI z-score was 0.45 ± 1.36 and mean fat mass was 22.93% ± 9.09. Grip strength was age-appropriate or above normal. 18 participants underwent CPET with subnormal results for maximum heart rate (z-score -2.84 ± 2.04); maximum workload (Wattmax; z score -1.28 ± 1.15) and maximum oxygen uptake per minute (z- score -2.25 ± 2.46). Eight participants (42.1%) met the criteria for chronotropic insufficiency (CI). Data from track-bands showed sedentary behavior for 81.15% ± 6.72 of the wear time.ConclusionA substantial impairment of cardiopulmonary function can be detected in this group of boys to young adults with KS, including chronotropic insufficiency in 40%. The track-band data suggest a predominantly sedentary lifestyle, despite normal muscular strength as assessed via grip strength. Future studies need to investigate the cardiorespiratory system and its adaption to physical stress in a larger cohort and in more detail. It is feasible that the observed impairments contribute to the avoidance of sports in individuals with KS and may contribute to the development of obesity and the unfavorable metabolic phenotype.

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Rare Association of Sensorimotor Polyneuropathy and Klinefelter Syndrome (47,XXY): Case Report

Cited by 4 publications

References 26 publications

A Rare Case of Klinefelter Syndrome Accompanied by Spastic Paraplegia and Peripheral Neuropathy

A Rare Case of Klinefelter Syndrome Accompanied by Spastic Paraplegia and Peripheral Neuropathy

A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome

Cardiorespiratory fitness in adolescents and young adults with Klinefelter syndrome – a pilot study

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