Hypogonadotropic Hypogonadism 12 With Or Without Anosmia; Hh12

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

Top most frequent phenotypes and symptoms related to Hypogonadotropic Hypogonadism 12 With Or Without Anosmia; Hh12

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism
  • Micropenis
  • Delayed puberty
  • Decreased testicular size
  • Primary amenorrhea
  • Hypogonadotrophic hypogonadism

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Hypogonadotropic Hypogonadism 12 With Or Without Anosmia; Hh12 Is also known as figd, eunuchoidism, familial hypogonadotropic, gonadotropin deficiency, familial idiopathic.

Researches and researchers

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Hypogonadotropic Hypogonadism 12 With Or Without Anosmia; Hh12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GnRH1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GNRH1
Specificity
100 %
Genes
100 %
Normosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

TACR3, PROKR2, PROK2, FGFR1, GNRH1, GNRHR, KISS1R
Specificity
15 %
Genes
100 %
Complete Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

TACR3, PROKR2, PROK2, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1R, ANOS1
Specificity
10 %
Genes
100 %
Hypogonadotropic Hypogonadism Sequencing Panel.

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 %
Hypogonadotropic Hypogonadism Deletion/Duplication Panel.

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 %
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 12 with or without anosmia (sequence analysis of GNRH1 gene).

By CGC Genetics (Portugal).

GNRH1
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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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