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Steroid hormones regulate essential physiological processes and inadequate levels have severe consequences on male sexual and general health. In the testis, Leydig cell is the steroidogenic unit, whose functioning may be affected by mutations falling within key genes. Here, we review the impact of known mutations in the luteinizing hormone (LH) beta subunit and receptor (LHCGR), insulin-like peptide 3 (INSL3), and enzymes involved in steroidogenesis, as crucial regulators for Leydig cell activity. The link between genetics and clinical manifestations will also be described.

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Mutations Affecting Leydig Cell Function

  • 章节

  • 发表日期：

    2025年

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  • Clara Lazzaretti,
  • Chiara Furini,
  • Daniele Santi,
  • Manuela Simoni,
  • Livio Casarini

摘要

Steroid hormones regulate essential physiological processes and inadequate levels have severe consequences on male sexual and general health. In the testis, Leydig cell is the steroidogenic unit, whose functioning may be affected by mutations falling within key genes. Here, we review the impact of known mutations in the luteinizing hormone (LH) beta subunit and receptor (LHCGR), insulin-like peptide 3 (INSL3), and enzymes involved in steroidogenesis, as crucial regulators for Leydig cell activity. The link between genetics and clinical manifestations will also be described.