共 98 条
What controls the timing of puberty? An update on progress from genetic investigation
被引:55
作者:

Gajdos, Zofia K. Z.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Program Genom, Boston, MA USA
Harvard Univ, Sch Med, Dept Genet, Childrens Hosp,Div Endocrinol, Boston, MA USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Hosp Sick Children, Div Endocrinol, Toronto, ON M5G 1X8, Canada

Hirschhorn, Joel N.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Program Genom, Boston, MA USA
Harvard Univ, Sch Med, Dept Genet, Childrens Hosp,Div Endocrinol, Boston, MA USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Hosp Sick Children, Div Endocrinol, Toronto, ON M5G 1X8, Canada

Palmert, Mark R.
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h-index: 0
机构:
Hosp Sick Children, Div Endocrinol, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Endocrinol, Toronto, ON M5G 1X8, Canada
机构:
[1] Hosp Sick Children, Div Endocrinol, Toronto, ON M5G 1X8, Canada
[2] Harvard Univ, Sch Med, Program Genom, Boston, MA USA
[3] Harvard Univ, Sch Med, Dept Genet, Childrens Hosp,Div Endocrinol, Boston, MA USA
[4] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA
关键词:
genetic regulation;
genetics;
hypogonadotropic hypogonadism;
Kallmann syndrome;
pubertal timing;
puberty;
GONADOTROPIN-RELEASING-HORMONE;
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM;
RECEPTOR-ALPHA GENE;
NATURALLY-OCCURRING MUTATIONS;
CENTRAL PRECOCIOUS PUBERTY;
LINKED KALLMANN-SYNDROME;
QUANTITATIVE TRAIT LOCI;
BREAST-CANCER RISK;
CONSTITUTIONAL DELAY;
COMMON VARIANTS;
D O I:
10.1097/MED.0b013e328320253c
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
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.
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页码:16 / 24
页数:9
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