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Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

The purpose of this study was to investigate a novel mutation in the luteinizing hormone beta-subunit (LHB) gene in one male patient with hypogonadism due to selective luteinizing hormone (LH) deficiency.

Methods

Sanger sequencing of one 28-year-old man born to consanguineous parents was performed. Treatment with human chorionic gonadotropin (hCG) (2000 IU, twice a week) was initiated for 3 months, followed by 5000 IU weekly to date.

Results

We identified a novel c.84G>A[p.W28X] nonsense LHB mutation. The W28X mutation produces a truncated LHB peptide of seven amino acids, which prevents the synthesis of intact LH. After 40 days of treatment with hCG, the patient exhibited a few spermatozoa in the semen. Treated for 6 months, the patient exhibited normal seminal parameters.

Conclusions

We identified a novel mutation in the LHB gene in a male patient with hypogonadism and provided evidence that LHB nonsense mutation can cause selective LH deficiency. We reconfirmed hCG treatment may restore male fertility due to LHB mutation.

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Acknowledgments

We thank the patient and his family.

Funding

This study was supported by the National Nature and Science Foundation of China (81370754, 81170559), the Jiangsu Province Special Program of Medical Science (BL2012009, ZX201110, FXK201221), and a project funded by PAPD of the Priority Academic Program Development of Jiangsu High Education Institutions (JX10231802).

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Authors and Affiliations

  1. State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China

    Xiaoyu Yang, H. Ochin, Li Shu, Jinyong Liu, Jiandong Shen, Jiayin Liu & Yugui Cui

  2. Department of Biotechnology, School of Basic Medicinal Sciences, Nanjing Medical University, Nanjing, 211166, China

    Changsong Lin

Authors
  1. Xiaoyu Yang
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  2. H. Ochin
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  3. Li Shu
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  4. Jinyong Liu
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  5. Jiandong Shen
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  6. Jiayin Liu
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  7. Changsong Lin
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  8. Yugui Cui
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Corresponding authors

Correspondence to Changsong Lin or Yugui Cui.

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The authors declare that have no conflicts of interest.

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Informed consent was obtained from all participants included in the study.

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Yang, X., Ochin, H., Shu, L. et al. Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism. J Assist Reprod Genet 35, 913–919 (2018). https://doi.org/10.1007/s10815-018-1133-5

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  • DOI: https://doi.org/10.1007/s10815-018-1133-5

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