Klinefelter Syndrome Related Articles
Klinefelter
syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. the connection between clinical
phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects also as on the KS, patients’ interindividual differences in terms of
health status will end during a much better management of this chromosomal disease. The aim of this review is to provide an update on both genetic and clinical
phenotype and their interrelationships. the most signs and symptoms of Klinefelter's
syndrome (KS) are well characterized since the first description of the disease. As traditionally described, patients with KS have tall stature, small testes, gynecomastia in late puberty, gynoid aspect of hips (broad hips), sparse hair , signs of
androgen deficiency and low serum
testosterone including elevated gonadotropins, and eventually azoospermia, oligospermia with hyalinization and fibrosis of the seminiferous tubules. Usually, the above-mentioned signs of
hypogonadism are also including psychosocial problems, although an alternate
phenotype has also been described, characterized by fewer clinical features. However, other studies didn't found evidence for a preferential inactivation of AR with shorter or longer CAG repeats, nor found associations with some clinical features (osteoporosis, artery diameter) and weighted CAG repeat length.
High Impact List of Articles
Relevant Topics in Medical