ErkrankungIsolierte Gonadotropin-Releasing Hormone (GnRH) Defizienz; Differentialdiagnose

NGS +

• Alias: Gonadotropic deficiency
• Alias: Isolated congenital gonadotropin deficiency
• Alias: Isolated congenital hypogonadotropic hypogonadism
• Alias: Isolated gonadotropin-releasing hormone deficiency
• Allelic: Hartsfield syndrome (FGFR1)
• Allelic: Jackson-Weiss syndrome (FGFR1)
• Allelic: Osteoglophonic dysplasia (FGFR1)
• Allelic: Pfeiffer syndrome (FGFR1)
• Allelic: Precocious puberty, central, 1 (KISS1R)
• Anosmic hypogonadotropic hypogonadism [panelapp] (CCDC141)
• CHARGE syndrome (CHD7)
• CHARGE syndrome (SEMA3E)
• Congenital hypogonadotropic hypogonadism [MONDO:0015770] (CCDC141))
• Hypogonadotropic hypogonadism 1 with/-out anosmia [Kallmann syndrome 1] (ANOS1)
• Hypogonadotropic hypogonadism 10 with/-out anosmia (TAC3)
• Hypogonadotropic hypogonadism 11 with/-out anosmia (TACR)
• Hypogonadotropic hypogonadism 12 with/-out anosmia (GNRH1)
• Hypogonadotropic hypogonadism 13 with/-out anosmia (KISS1)
• Hypogonadotropic hypogonadism 14 with/-out anosmia (WDR11)
• Hypogonadotropic hypogonadism 15 with/-out anosmia (HS6ST1)
• Hypogonadotropic hypogonadism 16 with/-out anosmia (SEMA3A)
• Hypogonadotropic hypogonadism 17 with/-out anosmia (SPRY4)
• Hypogonadotropic hypogonadism 18 with/-out anosmia (IL17RD)
• Hypogonadotropic hypogonadism 19 with/-out anosmia (DUSP6)
• Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Hypogonadotropic hypogonadism 20 with/-out anosmia (FGF17)
• Hypogonadotropic hypogonadism 21 with anosmia (FLRT3)
• Hypogonadotropic hypogonadism 22, with/-out anosmia (FEZF1)
• Hypogonadotropic hypogonadism 3 with/-out anosmia (PROKR2)
• Hypogonadotropic hypogonadism 4 with/-out anosmia (PROK2)
• Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
• Hypogonadotropic hypogonadism 7 without anosmia (GNRHR)
• Hypogonadotropic hypogonadism 8 with/-out anosmia (KISS1R)
• Hypogonadotropic hypogonadism 9 with/-out anosmia (NSMF)
• Leukodystrophy, hypomyelin., 8, with/-out oligodontia and/or hypogonadotropic hypogonadism (POLR3B)
• PCWH syndrome (SOX10)
• Periph. demyel. neuropathy, central dysmyelin., Waardenburg s. + Hirschsprung dis. [PCWH s.] (SOX10)
• Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
• Waardenburg syndrome, type 4C (SOX10)