PURPOSE OF REVIEW: Puberty is an important developmental stage during which reproductive capacity is attained. Genetic and environmental factors both influence the timing of puberty, which varies greatly among individuals. However, although genetic variation is known to influence the normal spectrum of pubertal timing, the specific genes involved remain unknown. RECENT FINDINGS: Recent genetic analyses have identified a number of genes responsible for rare disorders of pubertal timing such as hypogonadotropic hypogonadism and Kallmann syndrome. However, although the genetic basis of population variation in the timing of puberty is an active area of investigation, no genetic loci have been reproducibly associated with pubertal timing thus far. SUMMARY: This review provides an update of the genes implicated in disorders of puberty, discusses genes and pathways that may be involved in the timing of normal puberty, and suggests additional avenues of investigation to identify genetic regulators of puberty in the general population.
PURPOSE OF REVIEW: Puberty is an important developmental stage during which reproductive capacity is attained. Genetic and environmental factors both influence the timing of puberty, which varies greatly among individuals. However, although genetic variation is known to influence the normal spectrum of pubertal timing, the specific genes involved remain unknown. RECENT FINDINGS: Recent genetic analyses have identified a number of genes responsible for rare disorders of pubertal timing such as hypogonadotropic hypogonadism and Kallmann syndrome. However, although the genetic basis of population variation in the timing of puberty is an active area of investigation, no genetic loci have been reproducibly associated with pubertal timing thus far. SUMMARY: This review provides an update of the genes implicated in disorders of puberty, discusses genes and pathways that may be involved in the timing of normal puberty, and suggests additional avenues of investigation to identify genetic regulators of puberty in the general population.
Authors: Raoul C M Hennekam; Judith E Allanson; Leslie G Biesecker; John C Carey; John M Opitz; Eric Vilain Journal: Am J Med Genet A Date: 2013-05-06 Impact factor: 2.802
Authors: Yee-Ming Chan; Adelaide de Guillebon; Mariarosaria Lang-Muritano; Lacey Plummer; Felecia Cerrato; Sarah Tsiaras; Ariana Gaspert; Hélène B Lavoie; Ching-Hui Wu; William F Crowley; John K Amory; Nelly Pitteloud; Stephanie B Seminara Journal: Proc Natl Acad Sci U S A Date: 2009-06-30 Impact factor: 11.205
Authors: Ana Paula Abreu; Carlos A Toro; Yong Bhum Song; Victor M Navarro; Martha A Bosch; Aysegul Eren; Joy N Liang; Rona S Carroll; Ana Claudia Latronico; Oline K Rønnekleiv; Carlos F Aylwin; Alejandro Lomniczi; Sergio Ojeda; Ursula B Kaiser Journal: J Clin Invest Date: 2020-08-03 Impact factor: 14.808
Authors: Christina T L Chen; Lindsay Fernández-Rhodes; Robert G Brzyski; Christopher S Carlson; Zhao Chen; Gerardo Heiss; Kari E North; Nancy F Woods; Aleksandar Rajkovic; Charles Kooperberg; Nora Franceschini Journal: Hum Mol Genet Date: 2011-11-30 Impact factor: 6.150
Authors: Cintia Tusset; Sekoni D Noel; Ericka B Trarbach; Letícia F G Silveira; Alexander A L Jorge; Vinicius N Brito; Priscila Cukier; Stephanie B Seminara; Berenice B de Mendonça; Ursula B Kaiser; Ana Claudia Latronico Journal: Arq Bras Endocrinol Metabol Date: 2012-12
Authors: Ana Paula Abreu; Andrew Dauber; Delanie B Macedo; Sekoni D Noel; Vinicius N Brito; John C Gill; Priscilla Cukier; Iain R Thompson; Victor M Navarro; Priscila C Gagliardi; Tânia Rodrigues; Cristiane Kochi; Carlos Alberto Longui; Dominique Beckers; Francis de Zegher; Luciana R Montenegro; Berenice B Mendonca; Rona S Carroll; Joel N Hirschhorn; Ana Claudia Latronico; Ursula B Kaiser Journal: N Engl J Med Date: 2013-06-05 Impact factor: 91.245