Genetics of puberty
Abstract
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.
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A large number of genes influence maturation and functioning of the HPG axis; seventeen single-gene mutations have been associated with delayed or absent puberty in humans.
“In addition, a large number of genes influence the maturation and functioning of the HPG axis. For example, seventeen different single-gene mutations have been associated with delayed or absent puberty in humans (Herbison, 2007).”
From The Adaptive Calibration Model of stress responsivity (2011) · cites this paper as Herbison, 2007
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Serum level of NPTX1 is independent of serum MKRN3 in central precocious puberty
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Endogeneous Signals and Mammalian Puberty Onset: A Review
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- Authors
- Herbison, A. E.
- Affiliations
- University of Otago (NZ)
- Corresponding author
- Herbison, Allan E.
- ORCID
- Herbison, Allan E.
- Venue
- Hormone Research in Paediatrics
- Publisher
- S. Karger AG
- Published
- 2007
- Volume
- 68
- Issue
- Suppl. 5
- Pages
- 75-79
- ISSN
- 1663-2818 (ISSN-L)
- 1663-2826
- OpenAlex
- W2004666849
- Cited by
- 44
- References
- 61
- Citations by year
- 2022: 2 · 2021: 5 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 1 · 2015: 4 · 2014: 4 · 2013: 6 · 2012: 1
- FWCI
- 0.67
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Hormone Research in Paediatrics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- puberty, delayed puberty, precocious puberty, single-gene mutations, Kallmann syndrome, hypogonadotropic hypogonadism, anosmia, olfactory development, GnRH neurons
- MeSH terms
- Brain, Child Development, Humans, Hypogonadism, Infant, Mutation, Puberty, Puberty, Delayed, Puberty, Precocious, Kallmann Syndrome, Tumor Suppressor Proteins, Embryonic Development, Kisspeptins
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