ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2024) 21 7.0 | DOI: 10.1530/ey.21.7.0
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1Department of Pediatrics, University Hospital Liège, Belgium; 2.Neuroendocrinology Unit, GIGA-Neurosciences, University of Liège, Belgium


Introduction

This year clinical studies explored further some persistent questions regarding the challenges of diagnosing precocious or delayed puberty. Studies also explored further the genetic architecture of pathological puberty and identified rare new variants explaining central precocious puberty as well as common variants participating to constitutional delay of growth and puberty. The studies summarized in this chapter underline the future importance of polygenic scores for exploring abnormal puberty.

Basic science research this year illustrates the importance of the regulation of reproductive maturation by energy accessibility. Glutamate transmission in leptin sensitive neurons is required for normal pubertal development and bile acids appear to define a new role for the hepatic-gut-neuroendocrine axis in the control of puberty.

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