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The Genetic Basis of Delayed Puberty.
1Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, United Kingdom.
Frontiers in Endocrinology
|July 12, 2019
Summary
Constitutional delayed puberty, often familial, has unclear genetic causes. Researchers identified a mutation in the HS6ST1 gene in a family with isolated delayed puberty, highlighting genetic factors in pubertal development.
Area of Science:
- Genetics
- Endocrinology
- Developmental Biology
Background:
- Delayed pubertal onset is common, with two-thirds of cases being self-limited (constitutional) delayed puberty, often with a familial basis.
- Neuroendocrine mechanisms and genetic regulation of self-limited delayed puberty remain largely unknown.
- Previous genetic studies identified mutations in genes like FGFR1 and GNRHR, primarily in congenital hypogonadotropic hypogonadism (CHH) patients.
Purpose of the Study:
- To investigate the genetic underpinnings of isolated self-limited delayed puberty.
- To identify novel genetic mutations responsible for delayed puberty.
- To explore the genetic heterogeneity contributing to delayed and disordered puberty.
Main Methods:
- Next-generation sequencing was employed in a large family with isolated self-limited delayed puberty.
- Comparative analysis of mutation frequencies in GnRH deficiency genes between CHH and isolated self-limited delayed puberty probands.
- Review of recent evidence on genetic and epigenetic factors influencing GnRH transcription.
Main Results:
- A pathogenic mutation in the CHH gene HS6ST1 was identified as a likely cause of isolated self-limited delayed puberty in the studied family.
- A higher proportion of mutations with greater oligogenicity were observed in CHH probands compared to isolated self-limited delayed puberty probands.
- Mutations in IGSF10 have been linked to familial late puberty, suggesting a fetal origin involving GnRH neuronal migration defects. Deleterious variants in FTO were found in families with delayed puberty and low BMI.
Conclusions:
- Genetic factors play a significant role in self-limited delayed puberty, with HS6ST1 mutations being a newly identified cause.
- Genetic testing is emerging as a valuable tool for diagnosing and differentiating various causes of delayed puberty.
- Further research into the genetic and epigenetic landscape of puberty regulation is crucial for understanding its complexities.
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