Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.

ABSTRACT:

Background

WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra-rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early-onset insulin-dependent diabetes, optic atrophy, central diabetes insipidus and sensi-neuronal deafness. It is caused predominantly by bi-allelic mutations in the WFS1 gene and exceptionally in the WFS2-gene. There is very limited published data on gonadal function in young people with WS. Expansion of the phenotype has previously included suggestions of abnormalities in puberty in adolescents with (WS) but with little detail.^1-3 AIM: To assess testicular function and pubertal progression in a cohort of adolescent and young adult patients with classical

SUBMITTER: Rohayem J 

PROVIDER: S-EPMC12842843 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature