Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.

ABSTRACT: Wolfram syndrome type 1 (WS1) is a rare genetic disorder characterized primarily by non-autoimmune diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. It may include other endocrine, urological, psychiatric, and neurological disorders. The syndrome arises from mutations in the WFS1 gene, which encodes the Wolframin protein, a key regulator of endoplasmic reticulum (ER) function in pancreatic beta-cells and other tissues. Diabetes in WS1 typically has an early-onset, progresses slowly, and is characterized by insulin deficiency, low insulin requirement, and a lower incidence of chronic complications compared to type 1 autoimmune diabetes. Nowadays, there is no cure for WS1, and management relies on the treatment of the different associated conditions. Fertility can be

SUBMITTER: Caretto A 

PROVIDER: S-EPMC12450988 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature