Endocrine Abstracts

In addition to symptoms of androgen deficiency induced by low serum testosterone concentrations (i.e. classical hypogonadism), also variable phenotypes of androgen insensitivity exist in humans, mainly owing to defective, mutated androgen receptors. A more subtle modulation of androgen effects has been related to the CAG repeat polymorphism (CAGn) in exon 1 of the androgen receptor gene: in vitro, transcription of androgen-dependent target genes is attenuated with incre...

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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...