Molecular Background of Male and Female Central Hypogonadism

Dear Colleagues,

Central hypogonadism (CH) is a disorder that affects the hypothalamic–pituitary axis with congenital or acquired mechanisms. Ever since Sanger sequencing was developed, various genes have been implicated in the pathogenesis of congenital CH. Since 1991, when the key role of the KAL1 gene in the migration of GnRH-secreting neurons into the hypothalamus and olfactory nerve development was initially reported, Kallmann syndrome (KS) has been defined as a genetic disease leading to congenital CH associated with hyposmia/anosmia. Nowadays, about 30 genes have been shown to be involved in the pathogenesis of CH, and it has become clear that gene mutations can cause CH with or without hyposmia/anosmia, thus making the classification into normosmic KS and normosmic CH obsolete.  Furthermore, some gene mutations also seem to be implicated in the pathogenesis of late-onset hypogonadism, thus suggesting that genetic CH may be more frequent than expected. This Special Issue of the International Journal of Molecular Sciences aims to gather studies describing recent advances in the genetic background of CH and offer an updated and evidence-based classification of genetic CH. Evaluation of previous and current research will likely broaden our knowledge of genetic CH, including its epidemiology.

Prof. Dr. Aldo E. Calogero
Dr. Rossella Cannarella
Dr. Rosita A. Condorelli
Prof. Sandro La Vignera
Guest Editors

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• central hypogonadism;
• puberty delay;
• Kallmann syndrome;
• normosmic hypogonadism;
• late-onset hypogonadism;
• infertility;
• genetics;
• GnRH neurons.