Endocrine Abstracts

The first characterised mammalian Toll-like receptor (TLR) was described in 1997, i.e. TLR4, which can detect lipopolysaccharide (LPS) from Gram-negative bacteria. Since then several proteins structurally related to TLR4 were identified (TLR1-10). For example, TLR2 can bind to lipopeptides from Gram-positive bacteria. For both receptors human polymorphisms have been identified (TLR4 up to 14% and TLR2 up to 10% in Europe) and linked to several clinical conditions such as asthm...

DAX1 (NR0B1) and steroidogenic factor-1 (SF1, NR5A1) are two nuclear receptors that play a central role in adrenal development and disease. DAX1 was discovered as the cause of X-linked adrenal hypoplasia congenita in 1994 and, to date, more than 250 individuals and families with this condition have been reported. Boys tend to present with salt-losing adrenal failure in the neonatal period or with signs and symptoms of glucocorticoid insufficiency throughout childhood. Hypogona...

Adrenal insufficiency is a deadly disorder. Studies on the outcome of patients with adrenal insufficiency may have been hampered by the dramatic improvement in mortality and morbidity that occurred when synthetic glucocorticoids came available more than 60 years ago. Studies during the last 17 years have repeatedly shown that mortality rate in patients with hypopituitarism is doubled. The presence of adrenal insufficiency in hypopituitarism in young adults with childhood-onset...

Recently, clinical and fundamental research studies have dramatically changed the knowledge on the genetics of pheochromocytoma (PH). Previously, it was widely accepted that only 10% of the patients affected by a PH had a familial disease and that the malignant phenotype of a PH could not be diagnosed before the occurrence of the first metastasis. After the identification of the genes involved in the hereditary paraganglioma/pheochromocytoma syndrome (SDHD, SDHB, SDH...