The Genetic Basis of Delayed Puberty

@article{Howard2017TheGB,
  title={The Genetic Basis of Delayed Puberty},
  author={Sasha R. Howard and Leo Dunkel},
  journal={Neuroendocrinology},
  year={2017},
  volume={106},
  pages={283 - 291}
}
The genetic control of puberty remains an important but mostly unanswered question. Late pubertal timing affects over 2% of adolescents and is associated with adverse health outcomes including short stature, reduced bone mineral density, and compromised psychosocial health. Self-limited delayed puberty (DP) is a highly heritable trait, which often segregates in an autosomal dominant pattern; however, its neuroendocrine pathophysiology and genetic regulation remain unclear. Some insights into… 
The Genetic Basis of Delayed Puberty
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  • Medicine, Biology
    Front. Endocrinol.
  • 2019
TLDR
The importance of epigenetic up-regulation of GnRH transcription by a network of miRNAs and transcription factors, including EAP1, during puberty is highlighted, and genetic testing may become a realistic diagnostic tool for the differentiation of conditions of delayed puberty.
Delayed Puberty—Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries
TLDR
This review presents a comprehensive discussion of the clinical condition of delayed puberty, a common presentation to the pediatric endocrinologist, which may present both diagnostic and prognostic challenges and highlights the fascinating heterogeneity of disorders underlying this phenotype.
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TLDR
The objective of this review is to describe recent findings related to the genetic and epigenetic control of puberty and highlight the need to deepen the knowledge of the regulatory mechanisms of this process in the normal and abnormal context.
Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort
TLDR
Several rare dominant variants in genes implicated with GnRH migration and metabolism were identified in a quarter of the patients with familial or sporadic CDGP, suggesting genetic heterogeneity in this frequent pediatric condition.
EAP1 regulation of GnRH promoter activity is important for human pubertal timing
TLDR
The first EAP1 mutations leading to reduced GnRH transcriptional activity resulting in a phenotype of self-limited delayed puberty are identified and identified by whole-exome sequencing.
Delayed and Precocious Puberty: Genetic Underpinnings and Treatments.
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty
TLDR
This study supports the use of targeted exome sequencing in the clinical setting to aid the differential diagnosis between IHH and SLDP in adolescents presenting with pubertal delay, allowing clinicians to direct treatment appropriately.
Complex genetics of female fertility
TLDR
The data emerging from genome-wide association studies demonstrate the utility of genetics to explain epidemiological observations, revealing shared biological pathways linking puberty timing, fertility, reproductive ageing and health outcomes.
Delayed Puberty in Girls with Primary Amenorrhea: A Report of Cases
Background:Female puberty starts when the pituitary hormone producing follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which will stimulate the ovaries to produce estrogen. Delayed
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The Genetic Basis of Delayed Puberty
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