Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology.

Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology. Endocr Rev. 2018 Feb 09;: Authors: Gravholt CH, Chang S, Wallentin M, Fedder J, Moore P, Skakkebæk A Abstract Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role. For example, recent developments in genetics and genomics point to a fundamental change in our understanding of KS, with global epigenetic and RNA expression changes playing a central role for the phenotype.KS is also associated with more general health markers, including higher morbidity and mortality rates, and lower socio-economic status (which likely affects both morbidity and mortality). In addition, hypogonadism is associated with greater risk of of metabolic syndrome, type 2 diabetes, cardiovascular disease, breast cancer, and extragonadal germ cell tumors. Medical treatment typically focuses on testosterone replacement therapy (TRT), although the effects of this therapy has not been studied rigo...
Source: Endocrine Reviews - Category: Endocrinology Tags: Endocr Rev Source Type: research