Luteinizing hormone β‐subunit deficiency: Report of a novel LHB likely pathogenic variant and a systematic review of the published literature
Authors' conclusion
We report a novel likely pathogenic LHB variant in an Asian Indian patient. The typical phenotype in male patients with LHB deficiency is delayed puberty with low testosterone, low LH, and normal to high FSH and hCG monotherapy being the best therapeutic option.
Study context
- Population
- Patients with selective LH β-subunit (LHB) deficiency: index Asian Indian male and published cases (10 males and 3 females)10 males, 3 females published
- Outcome
- Index case and published LHB deficiency phenotype
Methodological detailsPRISMA guidelines, molecular dynamics simulation
- PRISMA guidelines
- Molecular dynamics simulation
Pooled result
As reported in the abstract
- Index case age at presentation (infertility)
- 36 years
- Index case testosterone (low)
- 0.23 ng/ml
- Index case LH (low)
- 0.44 mIU/ml
- Index case follicle-stimulating hormone (FSH) (high)
- 22.4 mIU/ml
- Published males with pathogenic LHB variants
- 11
- Median age at presentation of males (range), most commonly delayed puberty
- 29 (17-38) years
- Pathogenic/likely pathogenic variants reported in 9 index patients (3 in-frame deletions, 3 missense, 2 splice-site, 1 nonsense, 1 frameshift)
- 10
Original publication
Luteinizing hormone β‐subunit deficiency: Report of a novel LHB likely pathogenic variant and a systematic review of the published literature. Clin Endocrinol (Oxf). Published 4 May 2022. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →