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GTR Home > Conditions/Phenotypes > Hypogonadotropic hypogonadism 25 with anosmia

Hypogonadotropic hypogonadism 25 with anosmia

Summary

Hypogonadotropic hypogonadism-25 with anosmia (HH25) is characterized by delayed or absent puberty with low gonadotropic hormones in the setting of low testosterone or estradiol. Affected individuals also exhibit hyposmia or anosmia, with hypoplastic olfactory bulbs on MRI. Intrafamilial variable expressivity and incomplete penetrance has been observed (Messina et al., 2020). For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C4orf31, HH25, NORD, NDNF
    Summary: neuron derived neurotrophic factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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