Study of Ovarian Function and Pubertal Development in Girls and Women With Classic Galactosemia in Italy

What this Trial Is About

Researchers are studying female patients with classic galactosemia to better understand long-term complications such as primary ovarian insufficiency POI, which affects ovarian function and fertility. Despite improvements in early outcomes through newborn screening and a galactose-free diet, POI remains a significant concern. This large multicenter Italian observational study aims to clarify clinical, hormonal, developmental, and fertility-related factors in affected girls and women. The study involves female patients diagnosed with classic galactosemia confirmed by genetic testing, born between 1980 and 2024, and followed at specialized centers. It compares their pubertal development, clinical features, and hormone levels with those of the general population at key stages including infancy, childhood, puberty, and adulthood before menopause. It also investigates factors contributing to POI and describes fertility characteristics, as well as evaluating height achievement, quality of life, psycho-emotional adjustment, and cognitive development. Participants will undergo assessments at different life stages focusing on clinical and auxological features, hormonal profiles, and developmental evaluations. Researchers will track growth relative to familial targets and assess quality of life and emotional well-being. Outcomes include identifying POI-related factors and fertility status. The study spans from infancy through adulthood up to age 45, with ongoing observation to enhance understanding of galactosemias impact on female reproductive health.

Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia