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Article

Genetic forms of neurohypophyseal diabetes insipidus.

Best practice & research. Clinical endocrinology & metabolism - 1 Sept 2020

Spiess Martin, Beuret Nicole, Rutishauser Jonas

Abstract excerpt

In the majority of cases, hereditary neurohypophyseal diabetes insipidus (DI) is a monogenic disorder caused by mutations in the AVP gene. Dominant transmission is by far the most common form. In these patients, symptoms develop gradually at various ages during childhood, progressing with complete penetrance to polyuria and polydipsia that is usually severe. In autosomal dominant neurohypophyseal DI (ADNDI), the...

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Identifiers

PMID: 32712149
DOI: 10.1016/j.beem.2020.101432

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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