Endocrine Abstracts

Follicle-stimulating hormone (FSH) is a member of the glycoprotein hormone family that plays a pivotal role in ovarian folliculogenesis and spermatogenesis. FSH receptor (FSHR) is, indeed, highly expressed in granulosa and Sertoli cells respectively. However, recent studies have detected FSHR also in extra-gonadal tissues, such as adipose tissue, bone, endometrium, placenta, endothelium, monocytes, and malignant tissues, suggesting, that the activity of this hormone may not be...

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...

Introduction: Polymorphisms in the gene for FSH receptor (FSHR) and FSH β subunit (FSHB) might modulate FSH levels and represent genetic markers for a pharmacogenetic approach to male infertility treatment. rs6166 (c.2039 A>G, Asn680Ser) and rs1394205 (c.−29 G>A) in FSHR have been better analysed in women, whereas rs10835638 (−211 G>T) in FSHB seems to have a determinant role especially in men. However, studies considering the combined effect of th...

Perfluoroalkyl substances (PFASs) have been claimed as thyroid disrupting chemicals since the exposure to several PFASs was significantly associated with thyroid hormones derangements. Demographics such as sex, age, and disease status likely influence the associations between PFASs exposure and thyroid hormones since major hypothyroidism effects were observed among pregnant women and infants. This study aims to evaluate of the possible impact of legacy and new-generation PFAS ...

Purpose: Undercarboxylated-OCN (ucOCN), acting on the receptor GPRC6A, was shown to stimulate of testosterone (T) production in Leydig cells in rodents, in parallel with the hypothalamus/pituitary/gonadal axis mediated by luteinizing hormone (LH). Hence, reduced serum ucOCN and/or inactivating gene variants of GPRC6A, are supposed to affect testis function in humans. The aim of this study is to evaluate the association among serum ucOCN, rs2247911 GPRC6A gene polymorphism and ...

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 ...

Introduction: Klinefelter syndrome patients (KS) frequently show low bone mass, which could have multiple aetiologies. The structural basis of low bone mass and its consequences on bone strength are almost not known, but analogies in bone microstructure and strength between KS and ageing women have proposed by studying distal tibia by HRpQCT. The aim of this study was to compare proximal femur strength and bone structure of KS with elderly women and men....

Background: Klinefelter syndrome (KS) is the most common abnormality of sex chromosomes (47,XXY) and represents the first genetic cause of male infertility. Mechanisms leading to KS testis degeneration are still not completely defined but considered to be mainly the result of germ cells loss. In order to unravel the molecular basis of global testis dysfunction in KS patients, we performed a transcriptome analysis on testis biopsies obtained from six azoospermic non-mosaic KS p...