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The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
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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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Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
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Undiagnosed RASopathies in infertile men.

Anna-Grete Juchnewitsch1, Kristjan Pomm2, Avirup Dutta1

  • 1Chair of Human Genetics, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.

Frontiers in Endocrinology
|April 24, 2024
PubMed
Summary
This summary is machine-generated.

RASopathies, genetic disorders affecting the Ras/MAPK pathway, are a newly identified cause of male infertility. These conditions are particularly prevalent in men with cryptorchidism and spermatogenic failure, warranting further investigation.

Keywords:
RAS/MAPK pathwaycancercongenital testicular dysgenesiscryptorchidismexome sequencingmolecular diagnosismultidisciplinary managementsyndromic male infertility

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Area of Science:

  • Genetics
  • Endocrinology
  • Reproductive Medicine

Background:

  • RASopathies are congenital syndromes linked to the Ras/mitogen-activated protein kinase (MAPK) pathway, affecting approximately 1 in 1,000 individuals.
  • Cryptorchidism (CR), a common feature in RASopathy patients, is associated with spermatogenic failure (SPGF), a leading cause of male infertility.
  • The overlap suggests that men seeking infertility management may include undiagnosed RASopathy cases.

Purpose of the Study:

  • To investigate the prevalence of likely pathogenic or pathogenic (LP/P) variants in RASopathy-associated genes among men with idiopathic spermatogenic failure.
  • To determine if undiagnosed RASopathies contribute to male infertility, particularly in cases with a history of cryptorchidism.
  • To assess the clinical presentation and associated health concerns in infertile men with identified RASopathy gene variants.

Main Methods:

  • Exome sequencing was performed on 521 men with idiopathic SPGF (including 155 with CR) and 323 normozoospermic controls from the ESTonian ANDrology (ESTAND) cohort.
  • RASopathy-specific variant interpretation guidelines were applied to assess pathogenicity.
  • The findings were validated in the Genetics of Male Infertility Initiative (GEMINI) cohort, comprising 1,416 SPGF cases and 317 fertile men.

Main Results:

  • LP/P variants in RASopathy-linked genes were identified in 3.9% of men with CR and SPGF, a significant enrichment compared to controls (0.3%).
  • Overall, 17 subjects across both cohorts were diagnosed with undiagnosed RASopathies, primarily among SPGF patients (15 cases, 10 with CR).
  • All affected individuals presented with congenital genitourinary anomalies, skeletal/joint conditions, and other RASopathy-related issues, including rare malignancies in four cases.

Conclusions:

  • Congenital defects in Ras/MAPK pathway genes represent a novel genetic etiology for syndromic male infertility.
  • Undiagnosed RASopathies are notably enriched in infertile men with a history of cryptorchidism.
  • Infertile men diagnosed with RASopathies require comprehensive evaluation for associated congenital anomalies, skeletal conditions, and potential malignancies.