ArticleJournal of assisted reproduction and genetics2018
Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism.
Article in Journal of assisted reproduction and genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 21 citations in OpenAlex.
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Derepression of a single microRNA target causes female infertility in mice.Nucleic acids research · 2026Article
- Late gestation maternal overnutrition alters gene expression and histomorphology in neonatal foal testes.Journal of animal science · 2025Article
- Mechanism of female CHH caused by compound heterozygous mutations in the LHB gene.Journal of assisted reproduction and genetics · 2025Article
- Insights into immune microenvironment and therapeutic targeting in androgen-associated prostate cancer subtypes.Scientific reports · 2024Article
- Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.European journal of human genetics : EJHG · 2023Review
- The Roles of Luteinizing Hormone, Follicle-Stimulating Hormone and Testosterone in Spermatogenesis and Folliculogenesis Revisited.International journal of molecular sciences · 2021Review
- Interpretation of reproductive hormones before, during and after the pubertal transition-Identifying health and disordered puberty.Clinical endocrinology · 2021Review
- Male hypogonadism caused by a homozygous missense mutation of the LHB gene.The Korean journal of internal medicine · 2021Article
- [Molecular genetics and phenotypic features of congenital isolated hypogonadotropic hypogonadism].Problemy endokrinologii · 2021Article
- Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.Human genetics · 2021Review
- Morphometric Evaluation of Spermatogenic Cells and Seminiferous Tubules and Exploration of Luteinizing Hormone Beta Polypeptide in Testis of Datong Yak.Animals : an open access journal from MDPI · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.