NorthernWind
Luminary
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"The most common abnormality of sex chromosomes in humans is the 47, XXY aneuploidy, Klinefelter's Syndrome (KS). KS has an incidence of 1/500 male live births but it is diagnosed in only one-third of the affected. Many individuals with KS have no medical issues and are thus underdiagnosed, whereas others have been diagnosed post-mortem.
Klinefelter, Reinfenstein and Albrigh were the first to describe in nine subjects a syndrome characterized by gynecomastia, azoospermia, hyalinized and small testes, elevated levels of follicle-stimulating hormone ( FSH ) and hypogonadism. In 1957, Pasqualini and colleagues were the first to propose a genetic origin for Klinefelter's Syndrome in an important review of the literature.
In fact, they observed in a significant proportion of KS cases the presence of chromatin bodies in the cell nuclei of bioptic samples taken from skin, mucosal scrapings, and Leydig cells. The authors proposed that these chromatin bodies were likely to be indicative of the presence of the female Chromosome pair XX. That means, some patients with Klinefelter's Syndrome might be genetically females.
Apart from these findings, Pasqualini et al also analyzed KS patients behavior, which since childhood appeared to be characterized by apathy, timidity, hypokinesia, scarce intelligence, lack of initiative. Some of those patients were characterized by eunuchoidism and had suffered from a severe decreased in libido and potency.
The grey matter enhancement in sensorimotor regions in Klinefelter syndrome could be generated from low synaptic maturation of trimming, leading to increased volume of neuropil, decreased efficiency of synapses, and correlated deficits of sensorimotor system. This, in association with the grey matter regional reduction in hippocampus, parahippocampal cortices and amygdala, suggests the presence of a neuroanatomial substrate for memory deficit and mood alterations, correlated with the incidence of psychiatric disorders. The amygdala volume reduction may also be related with atypical temperament, passivity, and decreased sex drive, typical characteristics of the individuals affected by Klinefelter Syndrome.
Several studies have demonstrated so far the presence of a high frequency of correlation between KS and neuropsychiatric anomalies. Yet in 1942, Klinefelter and colleagues suggested that patients affected by KS showed a psychiatric syndrome characterized by hysteria, low intelligence and narcolepsy. Also, Heller and Nelson in 1945 observed in six KS patients nervousness, irritability, depression, loss of potency, worrying.
The main psychiatric comorbidities for KS are mood disorders, cognitive deficits and personality disorders. This contributes to difficulty in social adaptation and onset of behavioral problems. In a study a KS affected male group obtained weaker results than controls in the recognition of facial emotions and, in particular, of disgust and contempt. Similar results have been obtained for feelings of fear and anger".
Klinefelter, Reinfenstein and Albrigh were the first to describe in nine subjects a syndrome characterized by gynecomastia, azoospermia, hyalinized and small testes, elevated levels of follicle-stimulating hormone ( FSH ) and hypogonadism. In 1957, Pasqualini and colleagues were the first to propose a genetic origin for Klinefelter's Syndrome in an important review of the literature.
In fact, they observed in a significant proportion of KS cases the presence of chromatin bodies in the cell nuclei of bioptic samples taken from skin, mucosal scrapings, and Leydig cells. The authors proposed that these chromatin bodies were likely to be indicative of the presence of the female Chromosome pair XX. That means, some patients with Klinefelter's Syndrome might be genetically females.
Apart from these findings, Pasqualini et al also analyzed KS patients behavior, which since childhood appeared to be characterized by apathy, timidity, hypokinesia, scarce intelligence, lack of initiative. Some of those patients were characterized by eunuchoidism and had suffered from a severe decreased in libido and potency.
The grey matter enhancement in sensorimotor regions in Klinefelter syndrome could be generated from low synaptic maturation of trimming, leading to increased volume of neuropil, decreased efficiency of synapses, and correlated deficits of sensorimotor system. This, in association with the grey matter regional reduction in hippocampus, parahippocampal cortices and amygdala, suggests the presence of a neuroanatomial substrate for memory deficit and mood alterations, correlated with the incidence of psychiatric disorders. The amygdala volume reduction may also be related with atypical temperament, passivity, and decreased sex drive, typical characteristics of the individuals affected by Klinefelter Syndrome.
Several studies have demonstrated so far the presence of a high frequency of correlation between KS and neuropsychiatric anomalies. Yet in 1942, Klinefelter and colleagues suggested that patients affected by KS showed a psychiatric syndrome characterized by hysteria, low intelligence and narcolepsy. Also, Heller and Nelson in 1945 observed in six KS patients nervousness, irritability, depression, loss of potency, worrying.
The main psychiatric comorbidities for KS are mood disorders, cognitive deficits and personality disorders. This contributes to difficulty in social adaptation and onset of behavioral problems. In a study a KS affected male group obtained weaker results than controls in the recognition of facial emotions and, in particular, of disgust and contempt. Similar results have been obtained for feelings of fear and anger".
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