Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report.

ABSTRACT:

Introduction

Central diabetes insipidus (CDI) is a rare disorder caused by a deficiency in the secretion of arginine vasopressin (AVP) from the posterior pituitary. It can be either acquired or congenital, often due to genetic factors, and is typically inherited in an autosomal dominant manner.

Case presentation

This study describes the clinical features and the genetic analysis of a father and his son with familial CDI. Both presented in childhood with typical symptoms, including polyuria, polydipsia, and hypernatremia. Diagnosis was confirmed through water deprivation testing and subsequently supported by sellar magnetic resonance imaging. Genetic analysis identified the rare germline variant c.329G>A (p.Cys110Tyr) in the AVP gene, in heterozygosity, which segregate

SUBMITTER: Araujo PBMC 

PROVIDER: S-EPMC12215092 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature