State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.
Department of Biotechnology, School of Basic Medicinal Sciences, Nanjing Medical University, Nanjing, 211166, China.
J Assist Reprod Genet. 2018 May;35(5):913-919. doi: 10.1007/s10815-018-1133-5. Epub 2018 Feb 23.
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.
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.
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.
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.
本研究旨在探讨一名因选择性黄体生成素（LH）缺乏导致性腺功能减退症的男性患者中黄体生成激素β亚基（LHB）基因的一种新突变。
对一名 28 岁的男性患者进行 Sanger 测序，该患者出生于近亲。给予人绒毛膜促性腺激素（hCG）（2000 IU，每周两次）治疗 3 个月，随后每周 5000 IU 至今。
我们发现了一种新的 c.84G>A[p.W28X]无义 LHB 突变。W28X 突变产生了七个氨基酸的截断 LHB 肽，从而阻止了完整 LH 的合成。接受 hCG 治疗 40 天后，患者精液中出现了少量精子。治疗 6 个月后，患者的精液参数恢复正常。
我们在一名性腺功能减退症男性患者中发现了 LHB 基因的一种新突变，并提供了证据表明 LHB 无义突变可导致选择性 LH 缺乏。我们再次证实，hCG 治疗可能因 LHB 突变而恢复男性生育能力。
