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Genetics of pubertal delay.

Tansit SaengkaewSasha Rose Howard
Published in: Clinical endocrinology (2021)
The timing of pubertal development is strongly influenced by the genetic background, and clinical presentations of delayed puberty are often found within families with clear patterns of inheritance. The discovery of the underlying genetic regulators of such conditions, in recent years through next generation sequencing, has advanced the understanding of the pathogenesis of disorders of pubertal timing and the potential for genetic testing to assist diagnosis for patients with these conditions. This review covers the significant advances in the understanding of the biological mechanisms of delayed puberty that have occurred in the last two decades.
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • transcription factor
  • high throughput
  • dna methylation
  • risk assessment
  • human health
  • climate change