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Hypogonadotrophic hypogonadism due to a mutation in the luteinizing hormone β-subunit gene

  • Song, Jae Won (Department of Internal Medicine, Hallym University Sacred Heart Hospital) ;
  • Hwang, Hyo-Jeong (Department of Internal Medicine, Hallym University Sacred Heart Hospital) ;
  • Lee, Chang Min (Department of Internal Medicine, Hallym University Sacred Heart Hospital) ;
  • Park, Gun Ha (Department of Internal Medicine, Hallym University Sacred Heart Hospital) ;
  • Kim, Chul Sik (Department of Internal Medicine, Hallym University Sacred Heart Hospital) ;
  • Lee, Seong Jin (Department of Internal Medicine, Hallym University Sacred Heart Hospital) ;
  • Ihm, Sung-Hee (Department of Internal Medicine, Hallym University Sacred Heart Hospital)
  • Received : 2015.11.17
  • Accepted : 2016.06.10
  • Published : 2018.05.01

Abstract

Keywords

Acknowledgement

Supported by : Innovative Research Institute for Cell Therapy

References

  1. Weiss J, Axelrod L, Whitcomb RW, Harris PE, Crowley WF, Jameson JL. Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone. N Engl J Med 1992;326:179-183. https://doi.org/10.1056/NEJM199201163260306
  2. Valdes-Socin H, Salvi R, Daly AF, et al. Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene. N Engl J Med 2004;351:2619-2625. https://doi.org/10.1056/NEJMoa040326
  3. Lofrano-Porto A, Barra GB, Giacomini LA, et al. Luteinizing hormone beta mutation and hypogonadism in men and women. N Engl J Med 2007;357:897-904. https://doi.org/10.1056/NEJMoa071999
  4. Achard C, Courtillot C, Lahuna O, et al. Normal spermatogenesis in a man with mutant luteinizing hormone. N Engl J Med 2009;361:1856-1863. https://doi.org/10.1056/NEJMoa0805792
  5. Basciani S, Watanabe M, Mariani S, et al. Hypogonadism in a patient with two novel mutations of the luteinizing hormone ${\beta}$-subunit gene expressed in a compound heterozygous form. J Clin Endocrinol Metab 2012;97:3031-3038. https://doi.org/10.1210/jc.2012-1986

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  1. Male hypogonadism caused by a homozygous missense mutation of the LHB gene vol.36, pp.6, 2018, https://doi.org/10.3904/kjim.2021.086