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.
Female patients followed at participating Pediatric Endocrinology and Inherited Metabolic Disease Centers, born between January 1st, 1980 and December 31st, 2024, with a diagnosis of classic galactosemia and confirmed by genetic testing.
Obtaining informed consent.
Patients with known chromosomal abnormalities (e.g., trisomy 21, Turner syndrome, Fragile X syndrome, Kabuki syndrome, or other genetic conditions associated with pubertal disorders);
Patients with primary ovarian insufficiency due to causes other than galactosemia.
Female patients followed at the participating Italian Centers of Pediatric Endocrinology and Inherited Metabolic Diseases, born between January 1980 and December 2024, with a genetically confirmed diagnosis of classic galactosemia. The observation period will continue for all participants until adulthood, expected by December 2041.
Cohort
Other
Not listed
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
Mean laboratoristic parametres (FSH, LH, estradiol, AMH, inhibin-B)
To identify and describe potential factors contributing to the development of primary ovarian insufficiency (POI) in female patients with classic galactosemia
Presence of POI (yes/no)
To determine the proportion of patients with classic galactosemia who achieve their familial height target
Final Height (cm)
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