Endocrine Abstracts

Identified genetic players for most common diseases are not sufficient to explain their heritability. This situation is known as the missing heritability problem. One among the possible explanations is the impact of rare variants. We present our own results of rare variants in the gene SLC26A4 in Hashimoto’s thyroiditis (HT), which were not found in controls, and therefore confirm the possibility of their impact on this disease. We genotyped 147 Hashimoto’s ...

Germline AIP gene mutations have been linked with familial isolated pituitary adenomas (FIPA). Inactivating mutations of AIP have also been reported in seemingly sporadic pituitary adenomas, particularly of early onset, aggressive, and GH secreting.Aim: To assess the frequency and type of germline AIP gene mutations in patients with apparently sporadic PMAs.Material: The study included 31 consecutive patients with pituitary macroad...

Background: The human leukocyte antigen (HLA) cluster is a genetic region that has been associated with multiple autoimmune disorders, also with autoimmune thyroid diseases. Plenty attempts to establish the significance of class II HLA-DR in Hashimoto’s thyroiditis (HT) development were undertaken in the past; however, reports are rather divergent. This might be caused by different criteria used to diagnose HT. There is however an alternative hypothesis, according to whic...