Hypogonadotropic Hypogonadism 15 With Or Without Anosmia; Hh15

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 the genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypogonadotropic Hypogonadism 15 With Or Without Anosmia; Hh15

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism
  • Micropenis
  • Genu valgum
  • Decreased testicular size
  • Primary amenorrhea
  • Anosmia

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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 15 With Or Without Anosmia; Hh15 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Hypogonadotropic hypogonadism type 15 with or without anosmia.

By Centogene AG - the Rare Disease Company (Germany).

HS6ST1
Specificity
100 %
Genes
100 %

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Sources and references

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