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Last update 08 May 2025

Leydig Cell Hypoplasia

Last update 08 May 2025

Basic Info

Synonyms

46,XY DSD due to LH resistance or LHB deficiency, 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency, 46,XY disorder of sex development due to LH resistance or LHB deficiency

+ [32]

Introduction

A rare, 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.

Clinical Trials associated with Leydig Cell Hypoplasia

NCT02991209

/ CompletedPhase 2/3IIT

A Randomized Double-blind Study of Testosterone Replacement Therapy or Placebo in Testicular Cancer Survivors With Mild Leydig Cell Insufficiency (Einstein-intervention)

The overall purpose of the study is to evaluate the effect of 12 months testosterone replacement therapy in testicular cancer survivors with mild Leydig Cell Insufficiency in order to reduce the risk of cardiovascular disease.
The primary study objective is to evaluate changes in insulin sensitivity. The secondary study objective is to evaluate changes in the prevalence of metabolic syndrome, body composition, systemic inflammation and symptoms of testosterone deficiency.

Start Date01 Nov 2016

Sponsor / Collaborator

Rigshospitalet

EUCTR2015-001452-30-DK

/ Not yet recruitingPhase 2IIT

A Randomized double-blind study of testosterone replacement therapy or placebo in testicular cancer survivors with mild Leydig Cell Insufficiency (Einstein-intervention) - EINSTEIN INTERVENTION

Start Date07 Dec 2015

Sponsor / Collaborator-

100 Clinical Results associated with Leydig Cell Hypoplasia

100 Translational Medicine associated with Leydig Cell Hypoplasia

0 Patents (Medical) associated with Leydig Cell Hypoplasia

467

Literatures (Medical) associated with Leydig Cell Hypoplasia

01 May 2025·Biochemical and Biophysical Research Communications

Cadmium exposure induces Leydig cell injury via necroptosis caused by oxidative stress and TNF-α/TNFR1 signaling

Article

Author: Kanwar, Yashpal S ; Sun, Yaohui ; Hu, Hongji ; Liu, Biao ; Li, Zitaiyu ; Yin, Yinghao ; Xu, Jiarong ; Tang, Yuxin ; Dai, Yingbo ; Wang, Jinhua ; Zheng, Xiaoping

Cadmium, a ubiquitous environmental pollutant, has been linked to testicular damage, primarily through mechanisms such as oxidative stress and various forms of programmed cell death. Despite extensive studies on its toxic effects, the specific role of necroptosis in cadmium-induced reproductive toxicity remains unclear. In this study, we provide critical insights into how cadmium triggers necroptosis in Leydig cells, leading to testicular dysfunction. Using both in vitro and in vivo models, we demonstrated that cadmium exposure induces necroptotic cell death in Leydig cells, with significant involvement of the TNF-α/TNFR1 signaling pathway and reactive oxygen species (ROS) generation. Co-treatment with Nec-1, a specific necroptosis inhibitor, significantly reduced elevated ROS levels and suppressed TNF-α/TNFR1-induced necroptotic cell death, suggesting that ROS and the TNF-α/TNFR1 signaling pathway contribute to necroptosis activation in cadmium-induced Leydig cell injury. In conclusion, we demonstrate that necroptosis is a key driver of cadmium-induced testicular damage, suggesting that targeting necroptosis could offer novel therapeutic strategies for mitigating reproductive toxicity caused by heavy metals.

01 Mar 2025·Journal of Hazardous Materials

m6A RNA methylation modulates autophagy by targeting Map1lc3b in bisphenol A induced Leydig cell dysfunction

Article

Author: Chen, Liqian ; Chen, Zixin ; Deng, Chunhua ; Chen, Yufan ; Chen, Zhihong ; Mo, Jiahui

Bisphenol A (BPA) exposure can affect testicular Leydig cells (LCs), potentially causing male infertility. Research suggests that RNA epigenetic response to environmental exposure may impact LCs function and testosterone production, but the role of N⁶-methyladenosine (m6A) RNA methylation in mediating BPA exposure and its regulatory mechanisms remain unknown. Here, we demonstrate that BPA exposure significantly reduces testosterone biosynthesis and upregulates m6A modification in LCs using both in vivo and in vitro models. The involvement of the m6A "writer" METTL3 and the "eraser" ALKBH5 in regulating LCs m6A levels during BPA exposure was discovered, highlighting their central role. Manipulating these factors to reduce m6A methylation levels demonstrated potential for alleviating BPA-induced damage to LCs. Furthermore, integrated analysis of transcriptomic and MeRIP sequencing data reveals that the upregulation of m6A levels induced by BPA specifically targets the Map1lc3b mRNA, a pivotal regulator of autophagy, thereby exerting suppressive effects on autophagic processes. In conclusion, our findings suggest that targeting m6A RNA methylation could be a potential therapeutic approach to mitigate BPA-induced reproductive toxicity, offering novel insights into the epigenetic regulation of male reproductive health.

17 Feb 2025·Chemical Research in Toxicology

In Utero Perfluorodecanoic Acid Exposure Causes Fetal Leydig Cell Dysfunction via Endoplasmic Reticulum Stress-Mediated Lipid Composition Alteration

Article

Author: Fei, Qianjin ; Dong, Yaoyao ; Ren, Zheyuan ; Ge, Ren-shan ; Pan, Chengshuang ; Li, Huitao

Perfluorodecanoic acid (PFDA), a C10 fluorine-containing compound, is used widely and found to be present anywhere. However, whether it has reproductive toxicity for fetal Leydig cells and the underlying mechanisms remain unknown. PFDA was investigated for its effects on fetal Leydig cells (FLCs) following exposure to 0, 1, 2.5, and 5 mg/kg/days (gavage to dams) from day 14 to day 21 during gestation. The study showed that in utero medium-dose PFDA (1, 2.5 mg/kg/days) exposure increased fetal body weight. However, PFDA markedly reduced serum testosterone levels, downregulated FLC genes (Lhcgr, Star, Cyp11a1, Hsd3b1, Cyp17a1, and Insl3), and decreased their protein levels in neonatal rat testes. PFDA at 5 mg/kg/day altered lipid metabolism with upregulation of Elovl1 and downregulation of Scd2, subsequently inducing endoplasmic reticulum stress. Additionally, PFDA exposure downregulated transcription factor Gli1, thereby inhibiting fetal Leydig cell differentiation. Meanwhile, PFDA reduced testosterone biosynthesis in R2C Leydig cells in vitro, and the endoplasmic reticulum stress inhibitor tauroursodeoxycholic acid (TUDCA) reversed this process. In conclusion, PFDA disrupts fetal rat testicular lipid metabolism, induces endoplasmic reticulum stress, and interferes with the steroidogenesis network, leading to fetal Leydig cell dysfunction. This study underscores the potential environmental risk of PFDA exposure on the development of male reproductive function development.

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Leydig Cell Hypoplasia

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