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Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male...
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Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
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Updated: Mar 14, 2026

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Genetic, Maternal, and Environmental Risk Factors for Cryptorchidism: An Update.

Julia Spencer Barthold1, Susanne Reinhardt2, Jorgen Thorup3

  • 1Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States.

European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie
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Cryptorchidism, or undescended testes, is a complex condition influenced by genetics and environment. Understanding gene-environment interactions is crucial for identifying risk factors and future prevention strategies.

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Area of Science:

  • Developmental Biology
  • Pediatric Endocrinology
  • Environmental Health

Background:

  • Cryptorchidism (undescended testes) is a common congenital anomaly.
  • It often occurs in isolation but is influenced by genetic and environmental factors.
  • Previous research suggests moderate genetic risk and a role for the maternal environment.

Purpose of the Study:

  • To review potential genetic and environmental risk factors for cryptorchidism.
  • To highlight the need for further research into gene-environment interactions.
  • To discuss future directions for understanding the etiology of cryptorchidism.

Main Methods:

  • Review of epidemiological studies on cryptorchidism risk factors.
  • Analysis of genetic data, including genome-wide association studies.
  • Examination of animal studies on testicular descent and endocrine-disrupting chemicals (EDCs).

Main Results:

  • Low birth weight and intrauterine growth retardation are strongly associated with cryptorchidism.
  • Maternal smoking and gestational diabetes increase risk.
  • EDCs may alter testicular function or gubernacular development, but their human contribution is unclear.

Conclusions:

  • Cryptorchidism etiology is complex, involving gene-environment interactions.
  • Large-scale studies are needed to elucidate these interactions, considering genetic loci, EDC mixtures, and epigenetics.
  • Further research is essential for better understanding and potentially preventing cryptorchidism.