Hypogonadotropic Hypogonadism 5 With Or Without Anosmia; Hh5

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 5 With Or Without Anosmia; Hh5

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism
  • Cleft lip
  • Hypogonadotrophic hypogonadism
  • Anosmia

Incidence and onset information

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 5 With Or Without Anosmia; Hh5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CHD7 Comprehensive - Sequence & Deletion/Duplication Analysis.

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100 %
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CHD7 Deletion/Duplication Analysis (Prenatal Diagnosis).

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CHD7 Sequence Analysis.

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CHD7 Sequence Analysis (Familial Mutation/Variant Analysis).

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CHD7 Sequence Analysis (Prenatal Diagnosis).

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PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

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Specificity
4 %
Genes
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CHD7 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

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Specificity
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Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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