Hypogonadotropic Hypogonadism 13 With Or Without Anosmia; Hh13

Description

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 (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Clinical Features

Phenotypes and symptoms related to Hypogonadotropic Hypogonadism 13 With Or Without Anosmia; Hh13

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Delayed skeletal maturation
  • Hypogonadism
  • Osteopenia
  • Hypogonadotrophic hypogonadism
  • Anosmia
  • Hypoplasia of the uterus
  • Breast aplasia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

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Hypogonadotropic Hypogonadism 13 With Or Without Anosmia; Hh13 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Kallmann Syndrome Sequencing Panel.

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 %
Hypogonadotropic hypogonadism 13 with or without anosmia (sequence analysis of KISS1 gene).

By CGC Genetics (Portugal).

KISS1
Specificity
100 %
Genes
100 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics (Portugal).

SEMA3A, TAC3, TACR3, WDR11, SPRY4, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, DUSP6, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, KISS1R , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics (Portugal).

SEMA3A, TAC3, TACR3, WDR11, SPRY4, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, DUSP6, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, KISS1R , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Idiopathic Hypogonadotropic Hypogonadism (IHH) via KISS1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

KISS1
Specificity
100 %
Genes
100 %
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SEMA3A, SEMA3E, SOX10, SOX2, SOX3, TAC3, TACR3, WDR11, SPRY4, PROKR2, IL17RD, PROK2, CHD7, LHX4, FEZF1, CCDC141, NSMF, DUSP6, FGF17, FGF8 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SEMA3A, SEMA3E, FOXL2, BRDT, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAR, AURKC, TAC3, TACR3, TAF4B, TEX11, WNT4, WT1, WWOX , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %

You can get up to 14 more panels with our dedicated tool

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Sources and references

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