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.
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To compare clinical and auxological features, as well as hormonal levels, of patients with a diagnosis of classic galactosemia with those of the general population at key stages of pubertal development
Timeframe: During minipuberty (3-18 months), childhood (18 months-10 years), puberty (from 10 years to menarche onset), and adulthood (before Menopause).
To identify and describe potential factors contributing to the development of primary ovarian insufficiency (POI) in female patients with classic galactosemia
Timeframe: At puberty (from 10 years to menarche onset), and at adulthood (before Menopause)