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Comment on “Hypogonadotrophic hypogonadism due to a mutation in the luteinizing hormone β-subunit gene”

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Song et al. [1], report a new case of a homozygous p.Leu72Arg mutation in exon 3 of the luteinizing hormone β (LHB) gene leading to hypogonadism in a 19-year-old male patient, which is one of only a handful of cases reported to date. As more physicians become aware of diagnosing luteinizing hormone (LH) deficiency, an important point that remains unresolved is the issue of the best therapeutic strategy to offer to these patients.

Abstract

Song et al. [1], report a new case of a homozygous p.Leu72Arg mutation in exon 3 of the luteinizing hormone β (LHB) gene leading to hypogonadism in a 19-year-old male patient, which is one of only a handful of cases reported to date. As more physicians become aware of diagnosing luteinizing hormone (LH) deficiency, an important point that remains unresolved is the issue of the best therapeutic strategy to offer to these patients.

참고문헌 (5)

  1. Jae Won Song, "Hypogonadotrophic hypogonadism due to a mutation in the luteinizing hormone β-subunit gene", The Korean Journal of Internal Medicine (2017), Korean Association of Internal Medicine[DOI]
  2. Bougneres P, "Effects of an early postnatal treatment of hypogonadotropic hypogonadism with a continuous subcutaneous infusion of recombinant follicle-stimulating hormone and luteinizing hormone", J Clin Endocrinol Metab, 93, pp.2202~2205 (2008)
  3. Valdes-Socin H, "Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene", N Engl J Med, 351, pp.2619~2625 (2004)
  4. Valdes-Socin H, "Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment", J Clin Endocrinol Metab, 94, pp.3~4 (2009)
  5. Potorac I, "A vital region for human glycoprotein hormone trafficking revealed by an LHB mutation", J Endocrinol, 231, pp.197~207 (2016)

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