Pregnancy Chances in Classic Galactosemia

N/ACompletedNCT02091128

Maastricht University Medical Center85 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Galactosemias Primary Ovarian Insufficiency

Eligibility

Sex: FEMALEMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * 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 Exclusion Criteria: * Any known congenital or acquired disease or disorder negatively affecting pubertal development and/or fertility.

Locations (1)

Maastricht University Medical Center

Maastricht, Netherlands