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Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

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Published on: September 4, 2011

Epigenetic Signatures in Hypospadias: Systematic Review.

Jyoti Sharma¹, Prabudh Goel¹, Devendra Kumar Yadav¹

¹Department of Paediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.

Journal of Indian Association of Pediatric Surgeons

|June 18, 2026

Summary

Environmental exposures contribute to hypospadias through epigenetic changes. DNA methylation patterns in genes involved in hormone signaling and development are altered, offering potential biomarkers for this condition.

Keywords:

Androgen receptor DNA methylation biomarkers congenital anomaly endocrine-disrupting chemicals environmental exposure epigenetics hypospadias systematic review

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Area of Science:

Environmental Epigenetics
Developmental Biology
Endocrinology

Background:

Hypospadias is linked to environmental endocrine-disrupting chemicals.
Molecular mechanisms connecting environmental factors to hypospadias phenotypes are poorly understood.
Epigenetic alterations, specifically DNA methylation, are investigated as a contributing factor.

Purpose of the Study:

To systematically review epigenetic alterations in human hypospadias.
To identify DNA methylation patterns involved in hypospadias etiopathogenesis.

Main Methods:

Systematic review following PRISMA guidelines.
Literature search in PubMed/MEDLINE (June 2025).
Independent study selection, data extraction, and quality assessment.

Main Results:

Eight studies (182 patients, 146 controls) were included.
Hormone signaling dysregulation (androgen receptor downregulation, estrogen receptor alpha upregulation) observed.
Differential methylation in genes regulating development, lipid transport, and smooth muscle function identified.
Environmental factors linked to xenobiotic metabolism gene upregulation.
Tissue-specific epigenetic signatures suggest potential noninvasive biomarkers.

Conclusions:

Epigenetic regulation, particularly DNA methylation, is crucial in hypospadias.
Altered methylation patterns correlate with disrupted hormonal signaling, developmental pathways, and environmental exposures.
Candidate genes and tissue-specific signatures may serve as biomarkers and therapeutic targets.