Roles of temperature and retinoic acid in the spermatogenesis defect associated with cryptorchidism

Shosei Yoshida

Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Correspondence: Prof. Yoshida Shosei PhD Higashiyama 5-1, Myodaiji, Okazaki 444-8787, Aichi, Japan

Abstract

Spermatogenesis is an evolutionarily conserved but physiologically fragile process that requires the testis to operate within a tightly controlled environment. Most mammals externalize their testes into the scrotum, maintaining a cooler temperature than the abdominal cavity. Failure of testicular descent—cryptorchidism—exposes the testis to higher temperatures and may cause defects in spermatogenesis and male infertility. Yet, it has remained elusive how high temperature affects spermatogenesis, and whether heat is the sole causal factor of spermatogenic defects in cryptorchidism. A recent study from our group, using an ex vivo organ culture system, revealed that temperature elevations of only 1–2 °C induce stage-specific blocks in spermatogenesis. In particular, meiotic double-strand break repair was found to be temperature-sensitive, triggering checkpoint-mediated germ cell elimination. We also showed that heat alone does not fully explain the pathology of cryptorchid testis: While all germ cells but undifferentiated spermatogonia are depleted in an artificial cryptorchid testis model—in which testes are exposed to 38 °C—such histological features were not observed in seminiferous tubules cultured at 38 °C or any other temperature tested. Further, we found that intratesticular retinoic acid (RA) levels decline within 40–48 h following testis translocation without overt cell loss, and that exogenous RA could restore spermatogonial differentiation even under body core temperature. Together, these findings indicate that cryptorchid-associated spermatogenesis defects may result from a combined insult, with high temperature impairing meiosis and spermiogenesis, and with RA depletion compromising spermatogonial commitment. Understanding this dual mechanism will open new translational opportunities, including potential therapies targeting RA metabolism.

Key words Spermatogenesis, temperature adult testis, experimental cryptorchidism

Résumé

La spermatogenèse est un processus évolutivement conservé mais physiologiquement fragile, nécessitant un environnement testiculaire strictement contrôlé. Chez la plupart des mammifères, les testicules sont externalisés dans le scrotum afin de maintenir une température plus basse que celle de la cavité abdominale. L’échec de la descente testiculaire—cryptorchidie—expose le testicule à une chaleur excessive et peut entraîner des altérations de la spermatogenèse et une infertilité masculine. Les mécanismes précis par lesquels la chaleur perturbe la spermatogenèse, et la question de savoir si la température élevée est l’unique facteur causal dans la cryptorchidie, demeuraient toutefois incertains.

Une étude récente de notre groupe, utilisant la culture organotypique ex vivo, montre que des élévations de seulement 1–2 °C induisent des blocages stade-spécifiques de la spermatogenèse. La réparation des cassures double-brin méïotiques apparaît particulièrement thermo-sensible, entraînant une élimination checkpoint-dépendante des cellules germinales. Nous démontrons également que la chaleur ne suffit pas à reproduire l’histopathologie de la cryptorchidie : alors que tous les types cellulaires germinatifs sauf les spermatogonies indifférenciées sont déplétés dans un modèle expérimental de cryptorchidie (38 °C), ce profil n’apparaît pas dans les tubes séminifères cultivés à 38 °C ou à toute autre température testée. De plus, les niveaux d’acide rétinoïque (AR) intratesticulaire chutent 40–48 h après la translocation testiculaire, avant toute perte cellulaire apparente, et l’apport exogène d’AR restaure la différenciation spermatogoniale même à température corporelle.

Ces résultats indiquent que les défauts de spermatogenèse associés à la cryptorchidie résultent d’une agression combinée : la chaleur perturbe la méiose et la spermiogenèse, tandis que la déplétion en AR compromet l’engagement spermatogonial. La compréhension de ce double mécanisme ouvre des perspectives translationnelles, notamment des thérapies ciblant le métabolisme de l’acide rétinoïque.

Introduction

Most mammals position the testes in the scrotum, where temperature is maintained below core body temperature [1,2]. This anatomical adaptation is widely thought to protect spermatogenesis by sustaining a cooler milieu. By contrast, some mammals (e.g., cetaceans and proboscideans) lack a scrotum but have evolved alternative testicular cooling strategies  [2].  These comparative observations underscore temperature control as a central principle of male germ-cell development.

Our laboratory aims to understand spermatogenesis with a particular emphasis on stem cell regulation in the adult testis. [3-5]. A persistent question is how temperature modulates the balance between spermatogonial stem cell (SSC) self-renewal and differentiation, and how subsequent stages—meiosis and spermiogenesis—respond to small thermal shifts. Cryptorchidism provides a clinically relevant lens for this question but is confounded in vivo by extratesticular factors (endocrine and neural inputs) and the difficulty of precisely measuring or controlling intratesticular temperature [6]. We therefore combined an artificial cryptorchidism model with an ex vivo organ culture system to dissect temperature-dependent steps and to assess whether heat alone accounts for the cryptorchid phenotype.

A guiding observation from artificial cryptorchidism is that after translocating adult mouse testes from the scrotum (~34 °C) to the abdominal cavity (~38 °C), seminiferous tubules become depleted of differentiating germ cells, retaining primarily undifferentiated spermatogonia (Aundiff) alongside Sertoli cells. KIT–positive differentiating spermatogonia are absent in this condition [6].  This suggested—initially—that high temperature may block the commitment of Aundiff to the differentiating spermatogonia. The work summarized here tests that hypothesis, identifies stage-specific thermal sensitivities, and reveals an additional, temperature-linked retinoic acid (RA) deficiency that helps explain the full cryptorchid pathology [7-10].

Methods and experimental systems

Artificial cryptorchidism in adult mice

We performed surgical translocation of testes from the scrotum to the abdominal cavity (adjacent to the liver), after normal adult spermatogenesis had been established. Intratesticular temperature increased from ~34 °C to ~38 °C (directly measured). Within this “extreme” but controlled model, histology consistently showed shrunken seminiferous tubules largely devoid of germ cells beyond Aundiff, consistent with previous reports and mirroring classic reports of cryptorchid pathology [6].

Ex vivo organ culture of seminiferous tubules

To isolate temperature as a sole controlled parameter and to exclude systemic influences, we employed a long-term gas–liquid interface organ culture of seminiferous tubules (based on an established by Takehiko Ogawa, Yokohama Japan) [11,12].  Cultures at 34 °C supported full spermatogenesis, including undifferentiated and differentiating spermatogonia, pachytene spermatocytes, round spermatids, and elongated spermatids, although being compromised compared with physiological spermatogenesis occurring in vivo. We then adjusted incubator setpoints in 1–2 °C increments to test a narrow temperature window from ~32 °C to 38 °C, scoring outcomes by histology, immunohistochemistry (including KIT and a meiosis marker Sycp3, late meiotic and haploid cell marker Protamine-GFP transgene).

Readouts for meiotic integrity and RA signaling

We evaluated meiotic progression (e.g., completion of meiosis I, appearance of haploid cells) and assessed DNA double-strand breaks (DSBs), through chromosome spread methods combined with immunostaining for DSBs (γH2AX) and meiosis machinery proteins (e.g., SCP1, SCP3, RPA2, RAD51, DMC1, and MLH1) and apoptosis proteins (cleaved Caspase 3) [13]. To assess the role of RA signaling, we measured intratesticular RA levels after testis translocation, profiled expression of key metabolic enzymes by qRT-PCR, and tested whether exogenous retinol/RA supplementation could rescue differentiation in the cryptorchid milieu.

Results

The infant GNRH1 transcriptional switch: microRNAs and NO

Temperature produces stage-specific blocks rather than a single threshold effect [13].

Contrary to our initial expectation of a single “commitment block of spermatogonial stem cells,” we observed a stepwise, stage-specific pattern of thermal sensitivity:

  • 32–35 °C: Spermatogenesis proceeded well to the stage of elongated spermatids.
  • ~36 °C: Elongated spermatids were lost, but round spermatids persist, indicating a selective vulnerability of spermiogenesis before complete arrest of
  • ~37 °C: Failure to complete meiosis is evident; haploid cells were
  • ~38 °C: Spermatocytes did not progress beyond mid-pachytene stages; meiotic progression was effectively blocked.

These observations demonstrate that increases of only 1–2 °C can shift the dominant defects from spermiogenesis (block of spermatid elongation) to meiotic arrest, leading to non-uniform thermal sensitivities across germ-cell stages.

High temperature impairs meiotic DSB repair and induces apoptosis on meiotic checkpoint

At 37–38 °C in culture, meiotic cells showed evidence of increased unrepaired DSBs persisting into pachytene stage, likely triggering meiotic checkpoint–mediated elimination of damaged germ cells. This mechanistic link—DSB repair sensitivity to heat and checkpoint activation—accounts for the abrupt pachytene-stage arrest and loss of downstream haploid cells at higher temperatures. [6,13].

Heat alone does NOT cause the full artificial cryptorchid pathology [6,13]. Despite recapitulating substantial defects in meiosis and spermiogenesis at 37–38 °C ex vivo, we found that the organ culture never reproduced the complete depletion of differentiating germ cells as seen in artificial cryptorchidism (i.e., “Sertoli cell–only” with residual undifferentiated spermatogonia and absence of KIT–positive differentiating spermatogonia and more advanced cells). Thus, while heat clearly disrupts meiosis and spermiogenesis, it does not fully explain the cryptorchid testis histology.

Cryptorchid testes rapidly lose intratesticular RA before cell loss

In the artificial cryptorchid model, RA levels decline within 2 days after translocation to the abdomen, before overt cell loss observed in 3–5 days. This early RA depletion occurs while all major cell types—including pachytene spermatocytes, the predominant RA producers via aldehyde dehydrogenase enzymes—are still present. Bulk RNA-seq before/after translocation did not reveal a clear, systematic change in RA-metabolizing enzyme mRNA levels, suggesting that the drop in RA could arise from post-transcriptional mechanisms.

Exogenous RA triggers spermatogonial commitment at body-core temperature

Administration of retinol, an RA precursor, to mice carrying cryptorchid testes could trigger differentiation of undifferentiated spermatogonia into differentiating spermatogonia. This occurred under body-core temperature (~38 °C), indicating that high temperature does not prevent spermatogonial commitment per se if adequate RA signaling is available.

Discussion

Multiple causes for spermatogenic defects in artificial cryptorchid

Our data indicate the pathophysiology of artificial cryptorchid testis involves multiple causes:

  1. Thermal injury to meiosis and spermiogenesis:
    A rise from 34 °C to 36–38 °C is sufficient to sequentially compromise (i) spermiogenesis (loss of elongation at ~36 °C) and (ii) meiotic completion (arrest and elimination at ~37-38 °C). In particular, DSB repair is impaired in meiotic prophase I, leading to apoptosis-mediated germ-cell elimination [13].
  2. Lowered RA compromising spermatogonial commitment:
    Artificial cryptorchidism triggers a rapid decrease in intratesticular RA, compromising undifferentiated-to-differentiating spermatogonial transition before histological degeneration, resulting in tubules with Sertoli cells and undifferentiated spermatogonia but no other differentiating germ cells. Exogenous RA can overcome this block even at 38 °C, showing that RA shortage—not heat alone—contributes to the spermatogenesis defect.

Implications for basic biology

The fine granularity of thermal sensitivity (1–2 °C steps) argues that spermatogenesis is buffered only within a narrow thermal optimum, highlighting distinct thermal liabilities of cellular programs (chromosomal synapsis formation, recombination, checkpoint control). The observation that RA levels fall quickly without corresponding mRNA changes for RA metabolic enzymes points to non-transcriptional control of RA homeostasis potentially involves enzyme kinetics and other mechanisms.

Implications for human pathology and therapeutic strategies

This study may provide some practical implications for human cryptorchidism. In particular, targeted modulation of RA metabolism or RA delivery may help preserve or restore some spermatogenesis. However, from a practical perspective, patient will receive orchiopexy before spermatogenesis proceeds upon puberty. In addition, the artificial cryptorchid mouse model is an extreme and controlled setting, making translation to human pathology require caution.

Conclusions

Spermatogenesis exhibits narrow thermal tolerance with distinct, stage-specific sensitivities: spermiogenesis is compromised near 36 °C, meiosis fails by ~37-38 °C through heat-sensitive DSB repair and meiotic checkpoints. Heat alone does not account for the full cryptorchid pathology. Instead, rapid decrease in RA concentration following testis translocation prevents spermatogonial commitment, producing the characteristic depletion of differentiating germ cells. Exogenous RA rescues this commitment step at body-core temperature, pointing to RA metabolism as a potential translational target. We propose a dual-insult mechanism in cryptorchidism: temperature deranges meiosis/spermiogenesis, while RA deficiency arrests spermatogonial differentiation.

Declaration Section

a) Ethics Approval and Consent to Participate Investigations were carried out in accordance 326 with the Declaration of Helsinki of 1975, revised in 2008.

b) Consent for publication Not applicable

c) Availability of data and supporting material  Not applicable

d) Competing interests  Author/s declare that they have no competing interests

e) Funding none

Acknowledgments

I thank Kodai Hirano, laboratory members in Department of Germ Cell Biology, National Institute for Basic Biology in Okazaki, Japan, and collaborators including Takehiko Ogawa (Yokohama City University) for the organ culture platform. Portions of this work have been published, while the RA components are unpublished and currently under investigation.

References

  1. Morgentaler A, Stahl BC, Yin Y. Testis and temperature: an historical, clinical, and research perspective. J Androl 1999;20:189-95.
  2. Hansen, P.J. Effects of heat stress on mammalian reproduction. Philos. Trans. R.  2009. Soc. Lond. B Biol. Sci.2009: 364; 3341–3350.
  3. Ikami K, Tokue M, Sugimoto R, Noda C, Kobayashi S, Hara K et al. Hierarchical differentiation competence in response to retinoic acid ensures stem cell maintenance during mouse spermatogenesis. Development 2025; 142, 1582–1592.
  4. Yoshida, S., Sukeno, M., and Nabeshima, Y. A vasculature-associated niche for undifferentiated spermatogonia in the mouse testis. Science 2007;317, 1722–1726.
  5. Nakamura, Y., Jörg, D.J., Kon, Y., Simons, B.D., and Yoshida, S. Transient suppression of transplanted spermatogonial stem cell differentiation restores fertility in mice. Cell Stem Cell 2021;28, 1443–1456.e7.
  6. Cobellis, G., Noviello, C., Nino, F., Romano, M., Mariscoli, F., Martino, A et al..  Spermatogenesis and cryptorchidism. Front. Endocrinol.2014; 1,5, 63.
  7. Sugimoto, R., Nabeshima, Y., and Yoshida, S.  Retinoic acid metabolism links the periodical differentiation of germ cells with the cycle of Sertoli cells. Mech. Dev. 2012;128, 610–624.
  8. Raverdeau, M., Gely-Pernot, A., Féret, B., Dennefeld, C., Benoit, G., Davidson, I et al.  Retinoic acid induces Sertoli cell paracrine signals for spermatogonia differentiation but cell autonomously drives spermatocyte meiosis. Proc. Natl. Acad. Sci. USA 2012;109, 16582–16587.
  9. Gely-Pernot, A., Raverdeau, M., Celebi, C., Dennefeld, C., Feret, B., Klopfenstein, M et al.  Spermatogonia differentiation requires retinoic acid receptor γ.Endocrinology 2012;153, 438–449.
  10. Haneji, T., Maekawa, M., and Nishimune, Y. Retinoids induce differentiation of type A spermatogonia in the cryptorchid rat testis. J. Nutr. 1983;113, 1119–1123.
  11. Sato, T., Katagiri, K., Gohbara, A., Inoue, K., Ogonuki, N., Ogura, A. et al. In vitro production of functional sperm in cultured neonatal mouse testes. Nature 2011; 471, 504–507.
  12. Sato, T., Katagiri, K., Kojima, K., Komeya, M., Yao, M., and Ogawa, T. In Vitro Spermatogenesis in Explanted Adult Mouse Testis Tissues. PLoS ONE 2015; 10, e0130171.
  13. Hirano, K, Nonami Y, Nakamura Y, Sato T, Sato T, Ishiguro KI, et al. Temperature sensitiv-ity of DNA double-strand break repair underpins heat-induced meiotic failure in mouse spermatogenesis. Commun. Biol.2022; 5, 504. 

Shosei Yoshida

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