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Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.

Pituitary - 1 Jun 2021

Alvelos Maria Inês, Francisco Ângela, Gomes Leonor, Paiva Isabel, Melo Miguel, Marques Pedro, Gama-de-Sousa Susana, Carreiro Sofia, Quintela Telma, Gonçalves Isabel, Lemos Manuel Carlos

Abstract excerpt

PURPOSE: Familial neurohypophyseal diabetes insipidus (FNDI) is a rare disorder characterized by childhood-onset progressive polyuria and polydipsia due to mutations in the arginine vasopressin (AVP) gene. The aim of the study was to describe the clinical and molecular characteristics of families with neurohypophyseal diabetes insipidus. METHODS: Five Portuguese families with autosomal dominant FNDI underwent...

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PMID: 33433888
DOI: 10.1007/s11102-020-01119-y

Genes

AVP

Variants

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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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