GROWTH AND DEVELOPMENT: Edited by Lynne L. LevitskyThe genetics of pubertal timing in the general population recent advances and evidence for sex-specificityCousminer, Diana L.a; Widén, Elisabethb; Palmert, Mark R.c,dAuthor Information aDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA bInstitute for Molecular Medicine, Finland, University of Helsinki, Helsinki, Finland cDivision of Endocrinology, The Hospital for Sick Children dDepartments of Pediatrics and Physiology, University of Toronto, Toronto, Canada Correspondence to Diana L. Cousminer, Division of Human Genetics, Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104-4318, USA. Tel: +1 267 426 2262; e-mail: [email protected] Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.co-endocrinology.com). Current Opinion in Endocrinology & Diabetes and Obesity: February 2016 - Volume 23 - Issue 1 - p 57-65 doi: 10.1097/MED.0000000000000213 Buy SDC Metrics Abstract Purpose of review This article overviews advances in the genetics of puberty based on studies in the general population, describes evidence for sex-specific genetic effects on pubertal timing, and briefly reviews possible mechanisms mediating sexually dimorphic genetic effects. Recent findings Pubertal timing is highly polygenic, and many loci are conserved among ethnicities. A number of identified loci underlie both pubertal timing and related traits such as height and BMI. It is increasingly apparent that understanding the factors modulating the onset of puberty is important because the timing of this developmental stage is associated with a wider range of adult health outcomes than previously appreciated. Although most of the genetic effects underlying the timing of puberty are common between boys and girls, some effects show sex-specificity and many are epigenetically modulated. Several potential mechanisms, including hormone-independent ones, may be responsible for observed sex differences. Summary Studies of pubertal timing in the general population have provided new knowledge about the genetic architecture of this complex trait. Increasing attention paid to sex-specific effects may provide key insights into the sexual dimorphism in pubertal timing and even into the associations between puberty and adult health risks by identifying common underlying biological pathways. Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved.