Searchable abstracts of presentations at key conferences in endocrinology
ea0063s18.1 | Congenital hypogonadotropic hypogonadism: New insights into GnRH Regulation | ECE2019
The transcription factor Gli3 plays a pivotal role in controlling the development of the terminal nerve and GnRH-1 neuronal migration
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 ...
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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