Delayed Puberty - Phenotypic Diversity, Molecular Genetic Mechanisms and Recent Discoveries.

Delayed Puberty - Phenotypic Diversity, Molecular Genetic Mechanisms and Recent Discoveries.
Endocr Rev. 2019 Apr 09;:
Authors: Howard SR, Dunkel L
Abstract
This review presents a comprehensive discussion of the clinical condition of delayed puberty, a common presentation to the paediatric endocrinologist, which may present both diagnostic and prognostic challenges. Our understanding of the genetic control of pubertal timing has advanced thanks to active investigation in this field over the last two decades, but remains in large part a fascinating and mysterious conundrum. The phenotype of delayed puberty is associated with adult health risks and common etiologies, and there is evidence for polygenic control of pubertal timing in the general population, sex-specificity and epigenetic modulation. Moreover, much has been learned from comprehension of mono- and di-genic etiologies of pubertal delay and associated disorders and, in recent years, knowledge of oligo-genic inheritance in conditions of GnRH deficiency. Recently there have been several novel discoveries in the field of self-limited delayed puberty, encompassing exciting developments linking this condition to both GnRH neuronal biology and metabolism and body mass. These data together highlight the fascinating heterogeneity of disorders underlying this phenotype and point to areas of future research where impactful developments can be made.
PMID: 31220230 [PubMed - as ...

Source: Endocrine Reviews - June 22, 2019 Category: Endocrinology Tags: Endocr Rev Source Type: research