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. 2009 Jul;92(1):344-51.
doi: 10.1016/j.fertnstert.2008.04.060. Epub 2008 Aug 5.

Biomarkers of ovarian function in girls and women with classic galactosemia

Rebecca D Sanders  1 , Jessica B Spencer, Michael P Epstein, Susan V Pollak, Pratibhasri A Vardhana, Joyce W Lustbader, Judith L Fridovich-Keil
Affiliations

Biomarkers of ovarian function in girls and women with classic galactosemia

Rebecca D Sanders et al. Fertil Steril. 2009 Jul.

Abstract

Objective: To determine whether premature ovarian insufficiency (POI) associated with classic galactosemia results from a true impairment of ovarian function or from aberrant FSH.

Design: Cross-sectional study.

Setting: University research laboratory.

Patient(s): Study subjects included 35 girls and women with galactosemia and 43 control girls and women between the ages of <1 and 51 years.

Intervention(s): Blood sampling and medical and reproductive histories were obtained.

Main outcome measurement(s): 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.

Result(s): 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.

Conclusion(s): 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.

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Figures

Figure 1
Figure 1
The Leloir pathway of normal galactose metabolism. Classic galactosemia is caused by profound impairment of galactose-1-phosphate uridylyltransferase (GALT) leading to an increased accumulation of galactose, gal-1-P, galactitol and galactonate, and perhaps a depletion of UDP-gal and/or UDP-glc.
Figure 2
Figure 2
AMH levels of girls and women with classic galactosemia (filled squares) and controls (open diamonds) between the ages of <1 and 52 yrs. Normal AMH range is shaded.
Figure 3
Figure 3
FSH levels of girls and women with classic galactosemia (filled squares) and controls (open diamonds) between the ages of <1 and 51 yrs. Small arrows indicate the two patients in the study with normal AMH values (Figure 2). Normal FSH range in reproductive-age women is shaded. Note that FSH levels in very young girls (<2 yrs) may vary, and women over 40 yrs are expected to demonstrate elevated FSH levels as they approach and enter menopause.
Figure 4
Figure 4
FSH bioactivity represented by B/I ratio (activity divided by the circulating FSH level) in patients and controls ≥8 yrs of age who were not on oral contraceptives or hormone therapy. Of note, 8 of 10 patients demonstrated FSH bioactivities that were within the control range; 2 presented FSH bioactivities that were slightly elevated.
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References

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