Genetic and Epigenetic Control of Puberty

Manotas, María Carolina; González, Daniel Mauricio; Céspedes, Camila; Forero, Catalina; Moreno, Adriana Patricia Rojas

doi:10.1159/000519039

Cited by 34 publications

(34 citation statements)

References 50 publications

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“…Within European countries, the range is from 49.81 to 51.30. Within Middle Eastern countries, it ranged from 46.24 to 48.30 ( Manotas et al, 2022 ).…”

Section: Policy Options and Implications-life Stages And Age Differ S...mentioning

confidence: 99%

Bring the life stages into the domain of basic and clinical pharmacology

et al. 2022

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Completely distinct physiological conditions and immune responses exist among different human life stages. Age is not always consistent with the life stage. We proposed to incorporate the concept of the life stages into basic and clinical pharmacology, including clinical trials, drug labels, and drug usage in clinical practice. Life-stage-based medical treatment is the application of medicine according to life stages such as prepuberty, reproductive, and aging. A large number of diseases are life-stage-dependent. Many medications and therapy have shown various age effects but not been recognized as life-stage-dependent. The same dosage and drug applications used in different life stages lead to divergent outcomes. Incorporating life stages in medicine and drug usage will enhance the efficacy and precision of the medication in disease treatment.

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“…Within European countries, the range is from 49.81 to 51.30. Within Middle Eastern countries, it ranged from 46.24 to 48.30 ( Manotas et al, 2022 ).…”

Section: Policy Options and Implications-life Stages And Age Differ S...mentioning

confidence: 99%

Bring the life stages into the domain of basic and clinical pharmacology

et al. 2022

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“…The decapeptide known as gonadotropin-releasing hormone (GnRH) is produced from a neuronal network primarily in the arcuate nucleus (ARC) area of the hypothalamus, and is known to be under both genetic and environmental influences [19]. What was initially referred to in the 1950s as the "gonadostat" is now accepted to be a complex interplay of numerous factors on the GnRH network, commonly referred to as the "GnRH pulse generator" [1].…”

Section: Physiology Of Normal Pubertymentioning

confidence: 99%

“…The beginning of central puberty is characterized by a decrease in hypothalamic inhibitory signals coupled with an increase in excitatory impulses that result in GnRH release, which is initially diurnal and pulsatile [19]. The primary excitatory signals are provided by glutamatergic neurons as well as a family of proteins called kisspeptins [22].…”

Section: Physiology Of Normal Pubertymentioning

confidence: 99%

The Role of Genetics in Central Precocious Puberty: Confirmed and Potential Neuroendocrine Genetic and Epigenetic Contributors and Their Interactions with Endocrine Disrupting Chemicals (EDCs)

Mucci

Clemente

2022

Endocrines

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Despite the growing prevalence of central precocious puberty (CPP), most cases are still diagnosed as “idiopathic” due to the lack of identifiable findings of other diagnostic etiology. We are gaining greater insight into some key genes affecting neurotransmitters and receptors and how they stimulate or inhibit gonadotropin-releasing hormone (GnRH) secretion, as well as transcriptional and epigenetic influences. Although the genetic contributions to pubertal regulation are more established in the hypogonadotropic hypogonadism (HH) literature, cases of CPP have provided the opportunity to learn more about its own genetic influences. There have been clinically confirmed cases of CPP associated with gene mutations in kisspeptin and its receptor (KISS1, KISS1R), Delta-like noncanonical Notch ligand 1 (DLK1), and the now most commonly identified genetic cause of CPP, makorin ring finger protein (MKRN3). In addition to these proven genetic causes, a number of other candidates continue to be evaluated. After reviewing the basic clinical aspects of puberty, we summarize what is known about the various genetic and epigenetic causes of CPP as well as discuss some of the potential effects of endocrine disrupting chemicals (EDCs) on some of these processes.

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“…In addition to the presence of rare variants and polymorphisms that may alter the regulation of the axis, epigenetic changes could be associated with different pathways involved in the HPG axis (8,9) and therefore, take part in FHA and confer a personal predisposition to anovulation consequent to a stressful event, or represent biological markers of response to stress.…”

Section: Introductionmentioning

confidence: 99%

Epigenetics of functional hypothalamic amenorrhea

et al. 2022

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Functional hypothalamic amenorrhea (FHA) is a temporary infertility characterized by the suppression of the hypothalamic–pituitary–gonadal (HPG) axis, induced by the inhibition of the hypothalamic pulsatile secretion of the gonadotropin-releasing hormone (GnRH), in the presence of stressors, including eating disorders, excessive exercise, and psychological distress. Although the stressful factors that may lead to FHA are well-established, little is known about the inter-individual variability in response to stress and the consequent inhibition of the HPG axis. Not all women, indeed, manifest FHA in presence of stressful conditions. Recent studies highlighted a genetic contribution to FHA. Rare or polymorphic variants in genes that control the development and/or function of GnRH neurons may contribute, indeed, to the adaptability of the reproductive axis to stress factors. Also epigenetic changes have been associated with different pathways involved in the HPG axis and therefore, take part in FHA and confer a personal predisposition to anovulation consequent to a stressful event, or represent biological markers of response to stress. This review summarizes recent advances in the identification of the contribution of (epi)genetics to FHA and to long-term complications of functional amenorrhea, and reports insights into the involvement of additional genetic loci in FHA development on the bases of the clinical and molecular overlap with other gynecological and/or psychological conditions. Finally, we describe the promising application of induced pluripotent stem cells (iPSCs) as a new approach to investigate the molecular pathways involved in FHA.

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Genetic and Epigenetic Control of Puberty

Cited by 34 publications

References 50 publications

Bring the life stages into the domain of basic and clinical pharmacology

Bring the life stages into the domain of basic and clinical pharmacology

The Role of Genetics in Central Precocious Puberty: Confirmed and Potential Neuroendocrine Genetic and Epigenetic Contributors and Their Interactions with Endocrine Disrupting Chemicals (EDCs)

Epigenetics of functional hypothalamic amenorrhea

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