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<p> To describe a rare case of isolated luteinizing hormone (LH) deficiency in a young male and report the discovery of a novel LHB variant with clinical, genetic, and bioinformatic characterization. Case report. A 21-year-old male with absent puberty, infertility, and persistently undetectable serum LH despite normal follicle-stimulating hormone (FSH). Hormonal evaluation, magnetic resonance imaging, Sanger sequencing of <i>LHB</i> exon 2, and in-silico modeling of wild and mutant protein structure and receptor binding campariosn. Identification of pathogenic <i>LHB</i> variants and their functional consequences on LH β-subunit conformation, heterodimerization, and receptor interaction. Sanger sequencing revealed a novel insertional variant within exon 2 of <i>LHB</i>, validated by chromatogram analysis and EMBOSS Needle alignment. Structural modeling demonstrated conformational distortion of the LH β-subunit, disrupted receptor-binding domains, and reduced docking stability with the LH receptor. Clinically, the patient responded to human chorionic gonadotropin (hCG) therapy with normalization of testosterone, spermatogenesis, and successful natural conception. This case report describes isolated luteinizing hormone deficiency associated with novel exon 2 variants in the LHB gene. Integration of clinical assessment, targeted genetic analysis, and bioinformatic modeling provided mechanistic insight and guided effective fertility-restoring therapy. While the findings strongly suggest a pathogenic role for the identified variants, functional studies are required to confirm their biological impact.</p>

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Clinical, Genetic, and Bioinformatic Insights into a Novel LHB Variant in Isolated Luteinizing Hormone Deficiency: A Case Report

  • 期刊论文

  • 发表日期：

    2026年6月1日

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  • Sidra Shahid,
  • Saba Irshad,
  • Hafiz Muzzammil Rehman,
  • Khaleeq ur Rehman,
  • Hafiz Muhammad Hammad

摘要

To describe a rare case of isolated luteinizing hormone (LH) deficiency in a young male and report the discovery of a novel LHB variant with clinical, genetic, and bioinformatic characterization. Case report. A 21-year-old male with absent puberty, infertility, and persistently undetectable serum LH despite normal follicle-stimulating hormone (FSH). Hormonal evaluation, magnetic resonance imaging, Sanger sequencing of LHB exon 2, and in-silico modeling of wild and mutant protein structure and receptor binding campariosn. Identification of pathogenic LHB variants and their functional consequences on LH β-subunit conformation, heterodimerization, and receptor interaction. Sanger sequencing revealed a novel insertional variant within exon 2 of LHB, validated by chromatogram analysis and EMBOSS Needle alignment. Structural modeling demonstrated conformational distortion of the LH β-subunit, disrupted receptor-binding domains, and reduced docking stability with the LH receptor. Clinically, the patient responded to human chorionic gonadotropin (hCG) therapy with normalization of testosterone, spermatogenesis, and successful natural conception. This case report describes isolated luteinizing hormone deficiency associated with novel exon 2 variants in the LHB gene. Integration of clinical assessment, targeted genetic analysis, and bioinformatic modeling provided mechanistic insight and guided effective fertility-restoring therapy. While the findings strongly suggest a pathogenic role for the identified variants, functional studies are required to confirm their biological impact.