Endocrine Abstracts

Idiopathic central hypogonadism (ICH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. Depending on the association with a normal or defective sense of smell, ICH could be respectively identified as normosmic ICH (nICH) or Kallmann’s syndrome (KS). Recent experimental evidences indicate the involvement of the new PROK2/PROKR2 pathway in GnRH neuron maturation and function and mutations affecting these two genes have been described in some IC...

During the last decade induced overexpression of defined transcription factors has been shown to have a driving effect on the differentiation of embryonic stem cells (ESCs) into many specific cell types. Nevertheless, the generation of protocols promoting a coordinate self-assembly of differentiated cells into distinct morphological units with also functional properties reminiscent of organs and tissues in vivo are still very sparse. Recently, we have reported the gen...

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. IHH could be associated or not with anosmia respectively identifying the Kallmann’s syndrome (KS) or the normosmic IHH (nIHH). So far numerous causative genetic defects have been described, but very recent molecular genetic studies and animal models have opened novel perspectives. We are studying a series of 16 KS (14M,2F) and 18 nIHH (14M,4F). Al...