• PMID: 29476300
• Gene Name: LHB
• Condition: Male hypogonadism
• Association: Associated
• Mutation: c.84G>A[p.W28X]
• Population size: 1
• Population details: 1 patient with male hypogonadism
• Sex: Male
• Infertility type: Male infertility
• Associated genes: LHB
• Other associated phenotypes: Male hypogonadism

Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism

Yang X, Ochin H, Shu L, Liu J, Shen J, Liu J, Lin C, Cui Y.

PURPOSE: The 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. 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. FAU - Yang, Xiaoyu AU - Yang X AD - State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China. FAU - Ochin, H AU - Ochin H AD - State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China. FAU - Shu, Li AU - Shu L AD - State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China. FAU - Liu, Jinyong AU - Liu J AD - State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China. FAU - Shen, Jiandong AU - Shen J AD - State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China. FAU - Liu, Jiayin AU - Liu J AD - State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China. FAU - Lin, Changsong AU - Lin C AD - Department of Biotechnology, School of Basic Medicinal Sciences, Nanjing Medical University, Nanjing, 211166, China. lcs04bio@126.com.