RecruitingNCT07461519
Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
Sponsor
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Enrollment
60 participants
Start Date
Feb 12, 2025
Study Type
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
Sex: FEMALEMax Age: 45 Years
Inclusion Criteria2
- 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.
Exclusion Criteria2
- 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.
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Locations(19)
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NCT07461519