Endocrine Abstracts

Genetic association studies have been very successful and very reliable in many fields of medicine. Cross replication between studies now is the rule rather than the exception, which is very different from the situation a few years ago.Nonetheless, there are still possible problems with association studies which need close attention. These problems include population stratification even in the days of whole genome data sets, inappropriate methods of anal...

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 ...

Androgens and oestrogens, are acting through specific receptors, belonging to the nuclear receptor family and both androgen receptor (AR) and the two forms of oestrogen receptor, α (ER1) and β (ER2) are richly expressed in different parts of the male reproductive system.There are several examples indicating that polymorphisms in these sex hormone receptors can be associated with some types of disease or milder dysfunction of the sex hormone reg...

The LH receptor is a member of the large receptor family of GTP-binding protein coupled receptors. Mutations in the LH receptor gene cause severe sex hormone-related disease, ranging from very early precocious puberty in boys (activating mutation) to slight undervirilization, severe hypospadias or complete 46XY pseudohermaphroditism (inactivating mutation). Thus, LH receptor gene mutations have profound effects on sex hormone production and on physiology of patients. In additi...