CASE REPORT article
Front. Med.
Sec. Family Medicine and Primary Care
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1639884
This article is part of the Research TopicUncommon or Rare Forms of Diabetes: From Diagnosis to ManagementView all 5 articles
Diabetes mellitus and pregnancy in Wolfram Syndrome type 1: a case report with review of clinical and pathophysiological aspects
Provisionally accepted
Amelia Caretto1*
Francesca Scarascia Mugnozza2Fanny Valsecchi2
Erika Pedone3
Mirko Pozzoni4Susanna Rosa4
Andrea Laurenzi3
Giulio Frontino5
Raniero Chimienti2,3
Lorenzo Piemonti2,3
Marina Scavini3- 1Diabetes Research Institute, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milano, Italy
- 2Vita-Salute San Raffaele University, Milan, Italy, Milan, Italy
- 3Diabetes Research Institute, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Italy
- 4Department of Obstetrics and Gynaecology, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Italy
- 5Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Italy
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Wolfram Syndrome type 1(WS1) is a rare genetic disorder characterized primarily by nonautoimmune 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 compromised due to hypogonadism, although cases of successful pregnancy have been reported. These are high-risk pregnancies due not only to hyperglycemia, but also to the other comorbidities of the WS1. This review discusses the peculiarities of diabetes associated with WS1 and the reproductive outcomes in WS1, reporting a case of successful pregnancy in a woman with WS1 treated with a hybrid closed-loop insulin pump.
Keywords: Wolfram Syndrome, Fertility, Pregnancy, Pregestational diabetes, automated insulin delivery, rare disease, therapy
Received: 02 Jun 2025; Accepted: 08 Aug 2025.
Copyright: © 2025 Caretto, Scarascia Mugnozza, Valsecchi, Pedone, Pozzoni, Rosa, Laurenzi, Frontino, Chimienti, Piemonti and Scavini. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Amelia Caretto, Diabetes Research Institute, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milano, Italy
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