What controls the timing of puberty? An update on progress from genetic investigation.
OBJECTIVE
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.


RESULTS
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.


CONCLUSIONS
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.
Gajdos
Zofia Kz
ZK
Division of Endocrinology, Children's Hospital, Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Hirschhorn
Joel N
JN
Palmert
Mark R
MR
D000367:Age Factors; D004777:Environment; D005006:Ethnicity; D005260:Female; D014644:Genetic Variation; D042341:Gonadal Hormones / Q000378:metabolism; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007030:Hypothalamo-Hypophyseal System / Q000502:physiology; D017436:Kallmann Syndrome / Q000235:genetics; D008297:Male; D008572:Menarche / Q000502:physiology; D011627:Puberty / Q000235:genetics / Q000502:physiology*; D011628:Puberty, Delayed / Q000235:genetics; D044469:Racial Groups
D042341:Gonadal Hormones