Endocrine Abstracts

Self-limited delayed puberty is a condition that is frequently familial with strong genetic determinants. It has been linked to coding region sequence variation by next generation sequencing of affected individuals, identifying genetic regulation of gonadotropin-releasing hormone (GnRH) pathways underlying this condition. However, the role of epigenetic modifiers of human pubertal timing is underexplored. The Hypothalamic-pituitary-gonadal (HPG) axis is unique as it is active ...

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours, which arise from neural crest (NC)-derived structures: the adrenal medulla and the paraganglia. Around one third of PPGLs are associated with inherited cancer susceptibility genes, the highest rate among all tumour types. Currently, the only diagnostic criterion for malignant disease is the presence of metastasis and no molecular or histological features have been identified that help predict risk. A...