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Curr Opin Pediatr. 2018 Aug;30(4):532-540. doi: 10.1097/MOP.0000000000000642.

Genetics of pubertal timing.

Author information

1
Division of Endocrinology, Department of Medicine, Boston Children's Hospital.
2
Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.

Abstract

PURPOSE OF REVIEW:

To summarize advances in the genetics underlying variation in normal pubertal timing, precocious puberty, and delayed puberty, and to discuss mechanisms by which genes may regulate pubertal timing.

RECENT FINDINGS:

Genome-wide association studies have identified hundreds of loci that affect pubertal timing in the general population in both sexes and across ethnic groups. Single genes have been implicated in both precocious and delayed puberty. Potential mechanisms for how these genetic loci influence pubertal timing may include effects on the development and function of the GnRH neuronal network and the responsiveness of end-organs.

SUMMARY:

There has been significant progress in identifying genetic loci that affect normal pubertal timing, and the first single-gene causes of precocious and delayed puberty are being described. How these genes influence pubertal timing remains to be determined.

PMID:
29771761
PMCID:
PMC6082372
[Available on 2019-08-01]
DOI:
10.1097/MOP.0000000000000642
[Indexed for MEDLINE]

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