Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism

Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism Purpose The purpose of this study was to investigate a novel mutation in the luteinizing hormone beta-subunit (LHB)gene inone 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. . . . Keywords Primary hypogonadotropic hypogonadism Luteinizing hormone Luteinizing hormone beta subunit Selective luteinizing hormone deficiency Introduction LH plays a key role in pubertal development and the reg- ulation of reproductive function. The absence of LH alters the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Assisted Reproduction and Genetics Springer Journals

Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism

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Publisher
Springer Journals
Copyright
Copyright © 2018 by Springer Science+Business Media, LLC, part of Springer Nature
Subject
Medicine & Public Health; Gynecology; Reproductive Medicine; Human Genetics
ISSN
1058-0468
eISSN
1573-7330
D.O.I.
10.1007/s10815-018-1133-5
Publisher site
See Article on Publisher Site

Abstract

Purpose The purpose of this study was to investigate a novel mutation in the luteinizing hormone beta-subunit (LHB)gene inone 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. . . . Keywords Primary hypogonadotropic hypogonadism Luteinizing hormone Luteinizing hormone beta subunit Selective luteinizing hormone deficiency Introduction LH plays a key role in pubertal development and the reg- ulation of reproductive function. The absence of LH alters the

Journal

Journal of Assisted Reproduction and GeneticsSpringer Journals

Published: Feb 23, 2018

References

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