Genetics of puberty

Puberty is the physical transition in the maturation process experienced by adolescents. It is a complex process that requires a closely regulated interplay of genetic, metabolic, hormonal, and environmental mechanisms. The usual onset of puberty follows a set sequence of physical maturation, but some variability occurs between individuals with regard to timing, order, and tempo of this maturation process. Genetics accounts for the majority of this variability. Several genetic loci have now been identified that are associated with the age of onset of puberty. Major advancements have been made in identifying the different genes implicated in the pathophysiology of puberty. Despite these significant advances in understanding the genetics of puberty, a lot of the genetic basis still remains unexplained. Also, there seems to be a significant role of metabolic and environmental factors working in close collaboration with genetic factors in this complicated process of pubertal onset. This chapter will focus on the physiology of puberty, highlighting the role of various genetic factors, and their interplay with hormonal, metabolic, and other environmental factors.