Endocrine Abstracts

Introduction: Obesity associated with the risks of metabolic syndrome is a rising problem in Western societies but shows a wide depot- and sex-specific variation. A better understanding of the regulatory mechanisms underlying this different depot- and sex-specific role is crucial to identify potential diagnostic and therapeutic targets. MicroRNAs are recently recognized important players in adipogenesis and fat metabolism. They post-transcriptionally regulate diverse biologica...

Although androgen insensitivity syndrome (AIS) is commonly suspected as a cause of a 46,XY disorder of sex development (DSD), only about half of these cases can be attributed to an inactivating mutation within the coding sequence (CDS) of the androgen receptor (AR) gene. This led to the hypothesis that disrupted AR activation in AIS may also be caused by a defect in a co-factor of AR-activity. However, so far mutations in AR co-factors leading to AIS have not been ide...

Background: Disorders caused by impairments in the parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro as...