Genetics of puberty

被引:30
作者
Herbison, Allan E. [1 ]
机构
[1] Univ Otago, Sch Med Sci, Dept Physiol, Ctr Neuroendocrinol, Dunedin, New Zealand
关键词
puberty; hypogonadotropic hypogonadism; gonadotropin-releasing hormone;
D O I
10.1159/000110583
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background. Puberty is controlled by genetic and environmental factors. This review examines the genetic basis for puberty by evaluating known gene mutations associated with disordered puberty in humans. At present, at least 17 different single-gene mutations are recognized as being associated with delayed or absent puberty in humans. Several of these genes are involved in the development of the olfactory nervous system, with mutations typically resulting in anosmia/hyposmia and hypogonadotropic hypogonadism, otherwise known as Kallmann syndrome. The biological basis for the association between smell and fertility is strong as development of the gonadotropin-releasing hormone (GnRH) neurons, responsible for regulating fertility, is intricately associated with development of the olfactory system. Other gene mutations, including the recently discovered kisspeptin-GPR54 signalling system, affect puberty by directly or indirectly modulating the functioning of the GnRH neurons and pituitary gonadotrophs. Together, these single-gene mutations are presently estimated to account for approximately 30% of individuals with disorders of puberty. Conclusions: A large number of different genes are involved in the complex process of bringing about reproductive competency. In addition to the genetic mutations associated with precocious and delayed puberty, the oligogenic aetiology of these conditions is being increasingly appreciated. Copyright (c) 2007 S. Karger AG, Basel.
引用
收藏
页码:75 / 79
页数:5
相关论文
共 49 条
[1]   Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism [J].
Beranova, M ;
Oliveira, LMB ;
Bédécarrats, GY ;
Schipani, E ;
Vallejo, M ;
Ammini, AC ;
Quintos, JB ;
Hall, JE ;
Martin, KA ;
Hayes, FJ ;
Pitteloud, N ;
Kaiser, UB ;
Crowley, WF ;
Seminara, SB .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (04) :1580-1588
[2]   Molecular pathogenesis of Kallmann's syndrome [J].
Cadman, Steven Mark ;
Kim, Soo-Hyun ;
Hu, Youli ;
Gonzalez-Martinez, David ;
Bouloux, Pierre-Marc .
HORMONE RESEARCH, 2007, 67 (05) :231-242
[3]   Postnatal development of kisspeptin neurons in mouse hypothalamus; Sexual dimorphism and projections to gonadotropin-releasing hormone neurons [J].
Clarkson, Jenny ;
Herbison, Allan E. .
ENDOCRINOLOGY, 2006, 147 (12) :5817-5825
[4]   Development of GABA and glutamate signaling at the GnRH neuron in relation to puberty [J].
Clarkson, Jenny ;
Herbison, Allan E. .
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2006, 254 :32-38
[5]   A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction [J].
Clément, K ;
Vaisse, C ;
Lahlou, N ;
Cabrol, S ;
Pelloux, V ;
Cassuto, D ;
Gourmelen, M ;
Dina, C ;
Chambaz, J ;
Lacorte, JM ;
Basdevant, A ;
Bougneres, P ;
Lebouc, Y ;
Froguel, P ;
Guy-Grand, B .
NATURE, 1998, 392 (6674) :398-401
[6]   Postnatal remodeling of dendritic structure and spine density in gonadotropin-releasing hormone neurons [J].
Cottrell, Elizabeth C. ;
Campbell, Rebecca E. ;
Han, Seong-Kyu ;
Herbison, Allan E. .
ENDOCRINOLOGY, 2006, 147 (08) :3652-3661
[7]   Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse [J].
Dattani, MT ;
Martinez-Barbera, JP ;
Thomas, PQ ;
Brickman, JM ;
Gupta, R ;
Mårtensson, IL ;
Toresson, H ;
Fox, M ;
Wales, JKH ;
Hindmarsh, PC ;
Krauss, S ;
Beddington, RSP ;
Robinson, ICAF .
NATURE GENETICS, 1998, 19 (02) :125-133
[8]   Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54 [J].
de Roux, N ;
Genin, E ;
Carel, JC ;
Matsuda, F ;
Chaussain, JL ;
Milgrom, E .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (19) :10972-10976
[9]   Familial central precocious puberty suggests autosomal dominant inheritance [J].
de Vries, L ;
Kauschansky, A ;
Shohat, M ;
Phillip, M .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (04) :1794-1800
[10]   Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome [J].
Dodé, C ;
Levilliers, J ;
Dupont, JM ;
De Paepe, A ;
Le Dû, N ;
Soussi-Yanicostas, N ;
Coimbra, RS ;
Delmaghani, S ;
Compain-Nouaille, S ;
Baverel, F ;
Pêcheux, C ;
Le Tessier, D ;
Cruaud, C ;
Delpech, M ;
Speleman, F ;
Vermeulen, S ;
Amalfitano, A ;
Bachelot, Y ;
Bouchard, P ;
Cabrol, S ;
Carel, JC ;
Delemarre-van de Waal, H ;
Goulet-Salmon, B ;
Kottler, ML ;
Richard, O ;
Sanchez-Franco, F ;
Saura, R ;
Young, J ;
Petit, C ;
Hardelin, JP .
NATURE GENETICS, 2003, 33 (04) :463-465