What are the genetic causes of hypogonadotropic hypogonadism?

Updated: Apr 03, 2019
  • Author: Maria G Vogiatzi, MD; Chief Editor: George T Griffing, MD  more...
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Answer

Genetic causes

  • Kallmann syndrome (mutation in the  KAL [anosmin-1] gene, as well as  FGFR1, PROK2, and  PROKR2), with hyposmia or anosmia or without anosmia
  • Mutations in  GNRH1, KISS1R, GNRHR, TAC3, TACR3
  • Congenital adrenal hypoplasia (mutation in the  DAX1 gene)
  • Mutations in the  PROP1 and  HESX1 genes
  • Mutations in the gene coding for the gonadotropin-releasing hormone (GnRH) receptor
  • Isolated luteinizing hormone (LH) deficiency
  • Isolated follicle-stimulating hormone (FSH) deficiency

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