Endocrine Abstracts

Klinefelter syndrome (47XXY male) (KS) is the most common sex chromosome disorder in men. The phenotype is diverse including: infertility, hypogonadism, impaired cognition, behavior disorders, increased autoimmunity and osteopenia. We have studied osteopenia, learning dysfunction, germ cell loss, and testosterone deficiency in 41 XXY mice bred by two separate methods. We have characterized the germ cell loss by apoptosis and germ cell migration as the mice progress from day 1 ...

Klinefelter syndrome (KS; 47,XXY) is the most common sex chromosome disorder in man, affecting approximately 1:660 men, and is a common cause of infertility.Patients with KS are characterized by tall stature and progressive testicular failure. This results in azoospermia and androgen deficiency with an accompanying risk of developing several phenotypic characteristics in adulthood, e.g., osteopenia or even frank osteoporosis, and metabolic syndrome.<...

Klinefelter syndrome (47,XXY; KS) is a very common chromosomal disorder, affecting 1:500 men and leading to hypergonadotropic hypogonadism as well as an increased incidence of metabolic syndrome. However, our knowledge on the functional role of the supernumerary X chromosome itself and to which extent its origin contributes to the observed pathophysiology is still very limited. Recently we started the EXAKT (Epigenetics, X-Chromosomal features and clinical Applications in Klin...