Orphanet: Normosmic congenital hypogonadotropic hypogonadism

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Normosmic congenital hypogonadotropic hypogonadism

ORPHA:432

Classification level: Subtype of disorder

Synonym(s):
- Normosmic idiopathic hypogonadotropic hypogonadism
- nIHH
Prevalence: -
Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or Multigenic/multifactorial
Age of onset: Infancy, Neonatal
ICD-10: E23.0
ICD-11: 5A61.0
OMIM: 146110 147950 244200 308700 610628 612370 612702 614837 614838 614839 614840 614841 614842 614858 614880 615266 615269 615270 619755
UMLS: C5680088
MeSH: -
GARD: -
MedDRA: -

Summary

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located at the bottom of this page.

Detailed information

Guidelines

Clinical practice guidelines
English (2015) - Nat Rev Endocrinol

Disease review articles

Review article
Français (2009, pdf) - Ann Endocrinol

Clinical genetics review
English (2022) - GeneReviews

Genetic Testing

Guidance for genetic testing
Français (2016, pdf) - ANPGM

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