Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism

Journal of Assisted Reproduction and Genetics
Xiaoyu YangYu-gui Cui

Abstract

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.

References

Jan 16, 1992·The New England Journal of Medicine·J WeissJ L Jameson
Jan 1, 1981·Annual Review of Biochemistry·J G Pierce, T F Parsons
Oct 1, 1994·Endocrine Reviews·J M Saez
Dec 20, 1996·Molecular and Cellular Endocrinology·J L Jameson
Jul 20, 1999·Molecular and Cellular Endocrinology·I HuhtaniemiK Pettersson
Apr 12, 1963·Science·C G HELLER, Y CLERMONT
Dec 17, 2004·The New England Journal of Medicine·Hernán Valdes-SocinAlbert Beckers
Feb 10, 2006·Annals of the New York Academy of Sciences·Jonathan P Jarow, Barry R Zirkin
Sep 1, 2007·The New England Journal of Medicine·Adriana Lofrano-PortoFrancisco de Assis da Rocha Neves
Nov 6, 2009·The New England Journal of Medicine·Caroline AchardMicheline Misrahi
May 14, 2010·The Journal of Clinical Endocrinology and Metabolism·Ericka B TrarbachAna Claudia Latronico
Jun 23, 2012·The Journal of Clinical Endocrinology and Metabolism·Sabrina BascianiLucio Gnessi
Oct 15, 2013·Lancet·Shehzad Basaria
Sep 23, 2016·The Journal of Endocrinology·Iulia PotoracAdrian F Daly
Jan 17, 2017·The Korean Journal of Internal Medicine·Jae Won SongSung-Hee Ihm
May 12, 2017·The Korean Journal of Internal Medicine·Hernan Valdes-SocinAlbert Beckers

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.