Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.
And another 32 symptoms. If you need more information about this disease we can help you.
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia; Hh1 Is also known as anosmic hypogonadism, hha, kallmann syndrome 1, dysplasia olfactogenitalis of de morsier, hypogonadotropic hypogonadism and anosmia, kms, kal1.
Panel Name, Specifity and genes Tested/covered |
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![]() By Athena Diagnostics Inc (United States).
PROKR2, PROK2, FGF8, FGFR1, GNRHR, KISS1R, ANOS1
Specificity
15 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
ANOS1
Specificity
100 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
TACR3, PROKR2, PROK2, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1R, ANOS1
Specificity
10 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)
View the complete list with 52 more genes
Specificity
2 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1
Specificity
6 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1
Specificity
6 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, GNRH1, KISS1R, ANOS1, KISS1, LHB
Specificity
6 %
Genes
100 % |
![]() By Cytogenetics Laboratory SUNY Upstate Medical University (United States).
ANOS1
Specificity
100 %
Genes
100 % |
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