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"However, X-linked moyamoya syndrome and hypergonadotropic hypogonadism associated with moyamoya syndrome are unusual, and X-linked moyamoya syndrome and hypergonadotropic hypogonadism associated with moyamoya syndrome are extremely unusual. " We discuss the case of a 14-year-old boy who presented with intermittent bilateral hemiparesis, recurrent seizures, and cognitive decline. The presence of multiple collaterals was shown by magnetic resonance angiography of the brain narrowing of supraclinoid arteries, middle and anterior cerebral arteries, and the presence of multiple collaterals. This case illustrates a rare occurrence of moyamoya angiopathy and Klinefelter syndrome in a child from a poor socioeconomic background, where diagnosis and treatment were delayed due to a lack of knowledge and expertise. ".
Source link: https://doi.org/10.1007/s00381-021-05371-w
"Background Klinefelter syndrome is frustratingly under-diagnosed. " Objectivise We present a KS clinical presentation in a large Italian cohort. Klinefelter ItaliaN Group The first observational cohort study within a national network is the first observational cohort research conducted within a national network, according to the Klinefelter ItaliaN Group. Primary outcomes were intended to illustrate the basic clinical features and the real phenotype of KS in Italy. In Northern Italy, 76 in Central and 204 in Southern Italy, a descriptive analysis revealed that 329 KS patients were evaluated. Only 16% of KS patients received a diagnosis, according to the estimated number among male patients matched for age in Italy. These results are the findings of the king centers' only national database that gathers the clinical and hormonal records of the KS patients. The typical KS patient in Italy is overweight, with small blood tests, elevated LH and FSH, as well as elevated LH and FSH. ".
Source link: https://doi.org/10.1007/s40618-022-01816-4
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