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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 Bandgar
Published 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.
Keyphrases
  • replacement therapy
  • systematic review
  • case report
  • open label
  • randomized controlled trial
  • study protocol
  • meta analyses