Endocrine Abstracts

Congenital lipoid adrenal hyperplasia (CLAH) is a severe disorder characterized by early impairment of both adrenal and gonadal steroidogenesis, leading to early adrenal failure and male sex reversal. The most common aetiology of CLAH is mutation of Steroidogenic acute regulatory protein (StAR) gene.Objective: We report evolution over 20 years of a 46XX patient harbouring a novel StAR gene mutation.Methods: Clinical, hormonal and i...

Clinical insulin resistance, concomitant with higher circulating insulin, is implicated in the pathogenesis of polycystic ovary syndrome (PCOS) in which there is abnormal lipid metabolism with changes in ovarian hormone production. SREBPs are key transcriptional regulators of lipid biosynthesis and therefore may be involved in changes occurring in PCOS. We have examined whether insulin and gonadotrophin regulate SREBPs.Local ethical approval was granted ...

Introduction: Y-chromosomal azoospermia factor (AZF) microdeletions are one of the few well-established genetic causes of male infertility, specifically azoospermia or severe oligozoospermia. Since the introduction of a PCR-based method to easily detect the distinct deletion patterns, the screening of infertile men for Y microdeletions has become a very common genetic test performed frequently by a large number of laboratories. An external quality control scheme was establishe...

Background: Testicular overstimulation is the pursued therapeutic goal when exogenous follicle-stimulating hormone (FSH) is empirically administered to men with idiopathic infertility. Although a robust physiological rationale theoretically supports the FSH use in male idiopathic infertility, useful markers to evaluate its efficacy are still far from being detected. While pregnancy rate remains the strong outcome in couple infertility management, the identification of reliable...

FSH acts via binding to its specific receptors, the FSHR, possessing a large number of SNPs. The FSHR SNPs at nucleotide position 919 and 2039 in exon 10 are very common (heterozygosity: 0.469) and result in the aminoacid transition Thr/Ala at codon 307 and Asn/Ser at codon 680 respectively. In addition a G/A SNP is found in the promoter region at position −29, with the G allele covering 75% and the A allele 25% of the alleles in Caucasians. In turn, the FSHB gene, encod...

The FSHR is characterised by a large number of SNPs (1636 listed in the NCBI SNP database), mostly located in intronic regions and of unknown heterozygosity rate. Some SNPs, especially those which are nonsynonymous and located in exons have been studied in association with gonadal function.The SNPs at nt position 919 and 2039 in exon 10 are very common (heterozygosity: 0.469) and result in the aminoacid transition Thr/Ala at codon 307 and Asn/Ser ...

Background: The immortalised human granulosa cell line (hGL5) is not responding to gonadotropins, which fail to activate the cAMP/PKA/CREB pathway, progesterone production, cell rounding and apoptosis, suggesting that FSH- and LH/hCG-receptors (FSHR; LHCGR) are downregulated.Aim: To investigate whether the mechanism of FSHR/LHCGR downregulation is associated with life/death signals in hGL5 cells.Methods: We evaluated the FSHR/LHCGR...

Introduction: PCOS is a common endocrine disorder in women exhibiting characteristics ranging from hyperandrogenic to metabolic phenotypes, more prevalent in people of African/Caucasian and Asian ancestry, respectively. Since PCOS impairs fertility without diminishing in prevalence, it was discussed as an evolutionary paradox. GWAS identified 17 SNPs with different allele frequencies, depending on ethnicity, in various susceptibility loci (FSHR, LHCGR, DENND1A, THADA, C9OR...

Introduction: Human chorionic gonadotropin (hCG) is a glycoprotein hormone composed by two subunits, an alpha subunit common to all gonadotropins and a specific beta subunit. hCG is produced by trophoblast cells as differently glycosylated isoforms with a wide range of molecular weight, from 30 to 50 KDa (‘regular’ hCG is 37 KDa). hCG is used in the treatment of infertility. The aim of this study is to analyse and compare the composition of different commercial hCG.<...

Background: Conventional parameters evaluated in semen analysis show several limits in the diagnostic setting of male infertility and do not provide any useful prognostic tool for assisted reproductive technique (ART). On the contrary, the assessment of sperm DNA fragmentation (sDF) was proposed to discriminate fertile from infertile men and to predict the follicle stimulating hormone (FSH) treatment response in infertile men. However, a comprehensive evaluation thereof is not...