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

被引:55
作者
Gajdos, Zofia K. Z. [2 ,3 ,4 ]
Hirschhorn, Joel N. [2 ,3 ,4 ]
Palmert, Mark R. [1 ]
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.
引用
收藏
页码:16 / 24
页数:9
相关论文
共 98 条
[61]   Genetic approaches to stature, pubertal timing, and other complex traits [J].
Palmert, MR ;
Hirschhorn, JN .
MOLECULAR GENETICS AND METABOLISM, 2003, 80 (1-2) :1-10
[62]   Variation in the timing of puberty: Clinical spectrum and genetic investigation [J].
Palmert, MR ;
Boepple, PA .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (06) :2364-2368
[63]   The timing of normal puberty and the age limits of sexual precocity: Variations around the world, secular trends, and changes after migration [J].
Parent, AS ;
Teilmann, G ;
Juul, A ;
Skakkebaek, NE ;
Toppari, J ;
Bourguignon, JP .
ENDOCRINE REVIEWS, 2003, 24 (05) :668-693
[64]   Early onset of puberty: Tracking genetic and environmental factors [J].
Parent, AS ;
Rasier, G ;
Gerard, A ;
Heger, S ;
Roth, C ;
Mastronardi, C ;
Jung, H ;
Ojeda, SR ;
Bourguignon, JP .
HORMONE RESEARCH, 2005, 64 :41-47
[65]   Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism [J].
Pitteloud, N ;
Acierno, JS ;
Meysing, A ;
Eliseenkova, AV ;
Ma, JH ;
Ibrahimi, OA ;
Metzger, DL ;
Hayes, FJ ;
Dwyer, AA ;
Hughes, VA ;
Yialamas, M ;
Hall, JE ;
Grant, E ;
Mohammadi, M ;
Crowley, WF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (16) :6281-6286
[66]   Reversible Kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene [J].
Pitteloud, N ;
Acierno, JS ;
Meysing, AU ;
Dwyer, AA ;
Hayes, FJ ;
Crowley, WF .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (03) :1317-1322
[67]   Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism [J].
Pitteloud, Nelly ;
Zhang, Chengkang ;
Pignatelli, Duarte ;
Li, Jia-Da ;
Raivio, Taneli ;
Cole, Lindsay W. ;
Plummer, Lacey ;
Jacobson-Dickman, Elka E. ;
Mellon, Pamela L. ;
Zhou, Qun-Yong ;
Crowley, William F., Jr. .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (44) :17447-17452
[68]   Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism [J].
Pitteloud, Nelly ;
Quinton, Richard ;
Pearce, Simon ;
Raivio, Taneli ;
Acierno, James ;
Dwyer, Andrew ;
Plummer, Lacey ;
Hughes, Virginia ;
Seminara, Stephanie ;
Cheng, Yu-Zhu ;
Li, Wei-Ping ;
Maccoll, Gavin ;
Eliseenkova, Anna V. ;
Olsen, Shaun K. ;
Ibrahimi, Omar A. ;
Hayes, Frances J. ;
Boepple, Paul ;
Hall, Janet E. ;
Bouloux, Pierre ;
Mohammadi, Moosa ;
Crowley, William, Jr. .
JOURNAL OF CLINICAL INVESTIGATION, 2007, 117 (02) :457-463
[69]   Neurobiological mechanisms of puberty in higher primates [J].
Plant, TM ;
Barker-Gibb, ML .
HUMAN REPRODUCTION UPDATE, 2004, 10 (01) :67-77
[70]   Reversal of idiopathic hypogonadotropic hypogonadism [J].
Raivio, Taneli ;
Falardeau, John ;
Dwyer, Andrew ;
Quinton, Richard ;
Hayes, Frances J. ;
Hughes, Virginia A. ;
Cole, Lindsay W. ;
Pearce, Simon H. ;
Lee, Hang ;
Boepple, Paul ;
Crowley, William F. Hr ;
Pitteloud, Nelly .
NEW ENGLAND JOURNAL OF MEDICINE, 2007, 357 (09) :863-873