Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

The hypothalamic–pituitary–gonadal axis is of relevance in many processes related to the
development, maturation and ageing of the male. Through this axis, a cascade of …

Although first identified over 70 years ago, Klinefelter syndrome (KS) continues to pose
substantial diagnostic challenges, as many patients are still misdiagnosed, or remain …

Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

Abstract Background Knowledge about Klinefelter syndrome (KS) has increased
substantially since its first description almost 80 years ago. A variety of treatment options …

A fundamental question in the biology of sex differences has eluded direct study in humans:
How does sex-chromosome dosage (SCD) shape genome function? To address this, we …

Autoimmune thyroid disease (ATD) is the most frequent cause of acquired thyroid
dysfunction, most commonly presenting either as Hashimoto's thyroiditis or Graves' Disease …

Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1: 650
newborn males), defined by 47, XXY karyotype. The classical phenotype is that of a tall male …

Background In mammals, sex chromosomes pose an inherent imbalance of gene
expression between sexes. In each female somatic cell, random inactivation of one of the X …

One of the two X chromosomes in females is epigenetically inactivated, thereby
compensating for the dosage difference in X‐linked genes between XX females and XY …