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Background <p>Failures of testicular descent may result in the condition known as an undescended testis (UDT). While mechanical and hormonal causes have been researched quite extensively, not much is known about the underlying genetics. Developmental processes dependent on ciliary function may involve outer dynein arm heavy chain genes. Its role in testicular descent has never been explored. This study attempts to investigate the potential role of Outer Dynein Arm Heavy Chain (ODNAH) genes in UDT.</p> Methods <p>24 male juvenile UDT patients and 24 age-matched controls undergoing circumcision were included. Tissue samples from the preputial tissue and processus vaginalis were collected during orchiopexy and circumcision, respectively. RNA was extracted, converted to cDNA, and subjected to quantitative real-time PCR analysis for five ODNAH genes: <i>DNAH5</i>, <i>DNAH8</i>, <i>DNAH9</i>, <i>DNAH11</i>, and <i>DNAH17</i> with <i>GAPDH</i> as a reference gene. The relative expression was computed using the 2<sup>–∆∆Ct</sup> method.</p> Results <p>The mean age of the control group was 21.9 ± 19.4 months, while that of the UDT patient group was 24.5 ± 12.3 months. There was no significant difference in age between the groups (<i>p</i> = 0.06). <i>DNAH9</i> expression was significantly higher when comparing UDT tissues to controls (<i>p</i> = 0.0021), with a 2.52-fold increase associated with its upregulation (Log2FC = 1.33). Only small, insignificant expression changes were evident for <i>DNAH5</i>, <i>DNAH8</i>, <i>DNAH11</i>, and <i>DNAH17</i>. Most patients shared a similar expression pattern for DNAH9, suggesting that it may play a role in the pathophysiology of UDT.</p> Conclusion <p>These results suggest that <i>DNAH9</i> may play a role in the molecular mechanisms underlying testicular descent. The finding of <i>DNAH9</i> as a potential marker for disturbed germ cell development in cryptorchidism may represent an adaptive response to the aberrant microenvironment of UDT. These findings need to be verified by further studies, including expanded cohorts and functional analyses, to understand possible clinical relevance.</p>

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The potential role of dynein heavy chain genes in the pathophysiology of undescended testis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月21日

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  • Sinan Kılıç,
  • Burcu Turkgenc,
  • Yusuf Atakan Baltrak,
  • Gülşah Can Güler,
  • Halis Köylü

摘要

Background

Failures of testicular descent may result in the condition known as an undescended testis (UDT). While mechanical and hormonal causes have been researched quite extensively, not much is known about the underlying genetics. Developmental processes dependent on ciliary function may involve outer dynein arm heavy chain genes. Its role in testicular descent has never been explored. This study attempts to investigate the potential role of Outer Dynein Arm Heavy Chain (ODNAH) genes in UDT.

Methods

24 male juvenile UDT patients and 24 age-matched controls undergoing circumcision were included. Tissue samples from the preputial tissue and processus vaginalis were collected during orchiopexy and circumcision, respectively. RNA was extracted, converted to cDNA, and subjected to quantitative real-time PCR analysis for five ODNAH genes: DNAH5, DNAH8, DNAH9, DNAH11, and DNAH17 with GAPDH as a reference gene. The relative expression was computed using the 2–∆∆Ct method.

Results

The mean age of the control group was 21.9 ± 19.4 months, while that of the UDT patient group was 24.5 ± 12.3 months. There was no significant difference in age between the groups (p = 0.06). DNAH9 expression was significantly higher when comparing UDT tissues to controls (p = 0.0021), with a 2.52-fold increase associated with its upregulation (Log2FC = 1.33). Only small, insignificant expression changes were evident for DNAH5, DNAH8, DNAH11, and DNAH17. Most patients shared a similar expression pattern for DNAH9, suggesting that it may play a role in the pathophysiology of UDT.

Conclusion

These results suggest that DNAH9 may play a role in the molecular mechanisms underlying testicular descent. The finding of DNAH9 as a potential marker for disturbed germ cell development in cryptorchidism may represent an adaptive response to the aberrant microenvironment of UDT. These findings need to be verified by further studies, including expanded cohorts and functional analyses, to understand possible clinical relevance.