Biomarkers of ovarian function in girls and women with classic galactosemia.
OBJECTIVE
To determine whether premature ovarian insufficiency (POI) associated with classic galactosemia results from a true impairment of ovarian function or from aberrant FSH.


METHODS
Cross-sectional study.


METHODS
University research laboratory.


METHODS
Study subjects included 35 girls and women with galactosemia and 43 control girls and women between the ages of <1 and 51 years.


METHODS
Blood sampling and medical and reproductive histories were obtained.


METHODS
We determined FSH and anti-Müllerian hormone (AMH) levels in subjects with and without classic galactosemia. FSH bioactivity was measured in a subset of girls and women with and without galactosemia who were not on hormone therapy.


RESULTS
FSH levels were significantly higher and AMH levels were significantly lower in our galactosemic cases relative to controls. FSH bioactivity did not significantly differ between cases and controls.


CONCLUSIONS
Close to 90% of girls and women with classic galactosemia have a profound absence of ovarian function, a deficit that is evident shortly after birth, if not before. These patients have no evidence of abnormally functioning FSH. AMH levels can be assessed before menarche or after initiation of hormone therapy and may supplement FSH as a useful blood biomarker of ovarian function for patients with classic galactosemia.
Sanders
Rebecca D
RD
Graduate Program in Biochemistry, Cell, and Developmental Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
Spencer
Jessica B
JB
Epstein
Michael P
MP
Pollak
Susan V
SV
Vardhana
Pratibhasri A
PA
Lustbader
Joyce W
JW
Fridovich-Keil
Judith L
JL
D000293:Adolescent; D000328:Adult; D054304:Anti-Mullerian Hormone / Q000097:blood*; D015415:Biomarkers / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood*; D005693:Galactosemias / Q000097:blood* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008875:Middle Aged; D010053:Ovary / Q000502:physiology / Q000503:physiopathology*; D012016:Reference Values; D055815:Young Adult
D015415:Biomarkers; D054304:Anti-Mullerian Hormone; D005640:Follicle Stimulating Hormone