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Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism – A case report

  • Andréanne Jodoin ORCID logo EMAIL logo , Maud Marchand and Jacques Beltrand
Published/Copyright: September 15, 2022

Abstract

Objectives

Wolfram syndrome (WFS) is a rare neurodegenerative disease. Clinical diagnosis is made when nonautoimmune insulin-dependent diabetes is found to be associated with bilateral optic atrophy in a patient early in life. Frequent associations include diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Many other multisystemic associations have been described including menstrual irregularities in female and hypogonadism in male patients.

Case presentation

We present a first case of WFS associated with hypergonadotropic hypogonadism in a female adolescent diagnosed with WFS both clinically and genetically. Other causes of premature ovarian insufficiency (POI) have been excluded.

Conclusions

This case report shows the importance of gonadal function assessment and follow-up in time for both genders.


Corresponding author: Andréanne Jodoin, Pediatric Endocrinology, Gynecology and Diabetology Department, Necker Hospital, 149 Sèvres Street, 75743, Paris, France; and Obstetrics and Gynecology Department, University of Montreal, Montreal, Canada, Phone: 1-514-345-4931, E-mail:

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: The local Institutional Review Board deemed the study exempt from review.

References

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Received: 2022-05-20
Accepted: 2022-08-29
Published Online: 2022-09-15
Published in Print: 2022-12-16

© 2022 Walter de Gruyter GmbH, Berlin/Boston

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