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With this study, in which the incidence of pregnancy in classic galactosemia patients is studied, we aim to provide new insights to improve counselling. Our hypothesis is that the chance that a galactosemic woman with POI becomes pregnant is higher than the 5-10% that has been reported for women with POI due to other causes. Chance of spontaneous pregnancy will be evaluated through semi standardized interview in women with classic galactosemia aged 18 years or older. During the interview, questions will be asked regarding fertility and pregnancy.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Layout table for eligibility information
Ages Eligible for Study:
18 Years and older (Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Classic galactosemia diagnosed by GALT enzyme activity assay or GALT-gene mutation analysis
Eighteen years of age or older
Diagnosed with POI defined as symptoms of hypergonadotrophic hypogonadism measured by serum concentrations of FSH and estradiol
Capable of giving informed consent
Any known congenital or acquired disease or disorder negatively affecting pubertal development and/or fertility.
Primary Ovarian Insufficiency
Genital Diseases, Female
Endocrine System Diseases
Disorders of Sex Development
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Sex Chromosome Disorders
Genetic Diseases, Inborn
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors