Endocrine Abstracts

Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) and Kallmann syndrome (KS) represent two rare phenotypic presentations of humans with hypogonadotropic hypogonadism secondary to GnRH deficiency. KS/nIHH is genetically heterogeneous and is characterized by incomplete penetrance and variable expressivity. Some genetic variants may play the role of modifier alleles or act as ‘second hits’, providing an explanation of this phenotypic variability. In addition to ...

A sparse population of a few hundred primarily hypothalamic neurons forms the hub of a complex neuroglial network that controls reproduction in mammals by secreting the ‘master molecule’, gonadotropin-releasing hormone (GnRH). Both the Kisspeptin input on GnRH neurons and timely changes in GnRH expression are necessary for the onset of puberty. However, the exact molecular mechanisms underlying this process remain elusive. Here, we report that a dramatic inversion in...

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