Luteinizing hormone β-subunit deficiency: Report of a novel LHB likely pathogenic variant and a systematic review of the published literature.
Rohit BarnabasSwatiRamteke JadhavSneha AryaAnurag Ranjan LilaVijaya SarathiGaurang R ShahVishwambhar V BhandareNalini S ShahAmbarish KunwarTushar R BandgarPublished in: Clinical endocrinology (2022)
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.