Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
IRCCS Azienda Ospedaliero-Universitaria di Bologna
60 participants
Feb 12, 2025
OBSERVATIONAL
Conditions
Summary
Newborn screening and a galactose-free diet have improved early outcomes in galactosemia, but long-term issues such as primary ovarian insufficiency (POI) remain significant. This study aims to clarify clinical, hormonal, developmental, and fertility-related factors in affected girls through a large multicenter Italian cohort.
Eligibility
Plain Language Summary
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Locations(19)
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NCT07461519