Galactosemias, Primary Ovarian Insufficiency
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Maastricht University Medical Center
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Pregnancy incidence despite POI diagnosis | day 1 | Will be assessed during semi-standardized interview |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Whether women have tried to conceive | day 1 | Will be assessed during semi-standardized interview |
| Time to pregnancy (in case a participant has been pregnant) | day 1 | Will be assessed during semi-standardized interview |
| Menstrual history | day 1 | Will be assessed during semi-standardized interview |
| Hormonal replacement therapy usage | day 1 | Will be assessed during semi-standardized interview |
Countries
Netherlands
Outcome results
None listed