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 of Assisted Reproduction and Genetics – Springer Journals
Published: Feb 23, 2018
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