Genetic control of pubertal timing.
OBJECTIVE
Puberty is an important developmental and life stage that leads to sexual maturation and reproductive capability. Although the physiology of puberty is similar among individuals, the timing of puberty is quite variable and affected by environmental and genetic influences. Identification of the responsible genetic factors will greatly enhance the understanding of the key components and the modulation of the hypothalamic-pituitary-gonadal axis.


RESULTS
Genetic analyses are increasingly elucidating the genetic basis of pathological abnormalities in pubertal timing, including causes of idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Ongoing studies are also investigating the genetic control of puberty in the general population, although no definitive association between genetic variants and variations in pubertal timing has been discovered so far.


CONCLUSIONS
This review summarizes recent advances regarding the genetic control of pubertal timing and presents areas for future investigation.
Kaminski
Beth A
BA
Division of Pediatric Endocrinology, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio, USA.
Palmert
Mark R
MR
D000293:Adolescent; D000818:Animals; D005786:Gene Expression Regulation; D014644:Genetic Variation; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D017436:Kallmann Syndrome / Q000235:genetics; D020738:Leptin / Q000235:genetics; D011627:Puberty / Q000235:genetics*; D040641:Quantitative Trait Loci; D013997:Time Factors
D020738:Leptin