共 49 条
Genetics of puberty
被引:30
作者:

Herbison, Allan E.
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h-index: 0
机构:
Univ Otago, Sch Med Sci, Dept Physiol, Ctr Neuroendocrinol, Dunedin, New Zealand Univ Otago, Sch Med Sci, Dept Physiol, Ctr Neuroendocrinol, Dunedin, New Zealand
机构:
[1] Univ Otago, Sch Med Sci, Dept Physiol, Ctr Neuroendocrinol, Dunedin, New Zealand
来源:
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.
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页码:75 / 79
页数:5
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机构: Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France

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h-index: 0
机构: Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France

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h-index: 0
机构: Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France

Goulet-Salmon, B
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h-index: 0
机构: Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France

Kottler, ML
论文数: 0 引用数: 0
h-index: 0
机构: Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France

Richard, O
论文数: 0 引用数: 0
h-index: 0
机构: Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France

Sanchez-Franco, F
论文数: 0 引用数: 0
h-index: 0
机构: Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France

Saura, R
论文数: 0 引用数: 0
h-index: 0
机构: Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France

Young, J
论文数: 0 引用数: 0
h-index: 0
机构: Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France

Petit, C
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h-index: 0
机构: Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France

Hardelin, JP
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h-index: 0
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Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France Inst Pasteur, Unite Genet Deficits Sensoriels, F-75724 Paris 15, France