Endocrine Abstracts

Insulin-like factor 3 (INSL3) is a testis-specific, Leydig cell derived hormone, which we recently demonstrated to play a role in bone metabolism. Young men with mutations in the gene for the INSL3 receptor (Relaxin family peptide 2, RXFP2) are at risk of reduced bone mass and osteoporosis. Consistent with the human phenotype, bone analyses of Rxfp2−/− mice showed decreased bone volume, alterations of the trabecular bone, reduced mineralizing surface, bo...

The gene NR5A1, which encodes steroidogenic factor 1 (SF-1), is a pivotal transcriptional regulator of genes involved in adrenal and gonadal function, including several steroidogenic enzymes and key genes necessary for male sex determination and differentiation, testicular descent and reproduction (such as SOX9, AMH, INSL3, and AR). The most severe phenotypes associated with NR5A1 mutations include gonadal dysgenesis, disorders of sex development (DSD) and adrenal insuf...

Introduction: Testicular cancer (TC) is the most common cancer in white males aged 20–40 years, with a worldwide incidence of 7.5/100.000. Recently, we demonstrated an association between testiculopathy and alteration of the bone status, despite conserved bone-sparing effects of androgens and estrogens. Furthermore, recent published data from our group documented a strong reduction in 25(OH)D plasma levels in bilaterally orchiectomized patients compensated by testosterone...

Klinefelter syndrome (KS) was first described in 1942 and the cause for the syndrome was identified as a supernumerary X chromosome resulting in the karyotype 47,XXY. 80–90% of KS cases bear this karyotype, whereas the remaining exhibit (in decreasing frequency) varying mosaicism (e.g. 47,XXY/46,XY), carry additional sex chromosomes (48,XXXY; 48,XXYY; 49,XXXXY) or structurally abnormal X chromosomes. The prevalence of KS is up to 1 in 500 boys, and it is the most common c...