Journal Article

Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism

Cui, Yugui, Shen, Jiandong, Ochin, H, Liu, Jinyong, Lin, Changsong, Liu, Jiayin, Yang, Xiaoyu, Li, Shu

2018

Overview

PurposeThe 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.MethodsSanger 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.ResultsWe 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.ConclusionsWe 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.

• Publisher: Springer Nature B.V
• Subject: Androgens / Chorionic gonadotropin / Gonadotropins / Hypogonadism / Luteinizing hormone / Mutation / Nonsense mutation / Pituitary (anterior) / Semen