Endocrine Abstracts

Spermatogenic disruption is normally recognized by low sperm count and FSH levels. However, Leydig cell impairment is also frequent in subjects with primary testicular damage, as evidenced for example by reduced INSL3 and 25(OH)-vitamin D levels. The latter is caused by reduced expression of CYP2R1, a major enzyme involved in 25-hydroxylation of cholecalciferol. Furthermore, testosterone (T) production by the Leydig cells might be also impaired in men with primary spermatogeni...

Introduction: Decreased bone mineral density (BMD) in Klinefelter syndrome (KS) is frequent and it has been traditionally related to low testosterone levels. However, low BMD can be observed also in patients with normal testosterone levels and testosterone replacement therapy does not necessarily increase bone mass in these patients. Nothing is known about vitamin D levels and supplementation in KS. In this study we determine vitamin D status and bone mass in KS subjects and c...

Introduction: Klinefelter syndrome (KS) is characterised by the presence of at least one extra X chromosome and represents the most common chromosomal aberration in men. Apart from infertility, the clinical spectrum of KS is variable and often not directly related to hypogonadism, whose expression is also not unpredictable. Several genetic mechanisms may explain the clinical features and variability of the phenotype in KS. In particular, gene-dosage effects and the parental or...

Scrotal color-doppler ultrasonography (sCDUS) and transrectal ultrasonography (trCDUS) provide crucial information about the clinical status of testes and male accessory glands. However, the US evaluation of the infertile male is still often considered as a second level diagnostic tool. To analyze the role of ultrasound in male infertility, in order to predict hypothalamic-pituitary-testicular axis function, 1120 records from infertile men were retrospectively evaluated (from ...