ESPE Abstracts

Defects in the specification, migration and/or function of Gonadotropin-releasing hormone (GnRH) neurons gonadotropin-releasing hormone result in Kallmann Syndrome (KS), a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia (lack of sense of smell). To identify new molecular causes of KS, we performed a systematic genetic interrogation via whole exome sequencing of KS families. Autosomal dominant loss-of-function mutations in TCF12, a transcription...

GnRH–secreting neurons are unusual neuroendocrine cells, as they originate in the nasal placode outside the central nervous system during embryonic development, and migrate to the hypothalamus along the vomeronasal and terminal nerves. Postnatally these cells become integral members of the hypothalamic-pituitary-gonadal axis and they regulate puberty onset and reproduction through the release of GnRH into the pituitary portal blood vessels for delivery to the anterior pit...

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