期刊
CURRENT OPINION IN PEDIATRICS
卷 30, 期 4, 页码 532-540出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOP.0000000000000642
关键词
central precocious puberty; delayed puberty; genetics; genome-wide association; pubertal timing
类别
资金
- National Institutes of Health/Eunice Kennedy Shriver National Institute of Child Health and Human Development grant [R01 HD090071]
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.
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