Fertility and Sterility
Volume 92, Issue 1 , Pages 344-351, July 2009

Biomarkers of ovarian function in girls and women with classic galactosemia

  • Rebecca D. Sanders, B.A.

      Affiliations

    • Graduate Program in Biochemistry, Cell, and Developmental Biology, Emory University School of Medicine, Atlanta, Georgia
    • ,
  • Jessica B. Spencer, M.D., M.Sc.

      Affiliations

    • Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia
    • ,
  • Michael P. Epstein, Ph.D.

      Affiliations

    • Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia
    • ,
  • Susan V. Pollak, B.A.

      Affiliations

    • Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, New York, New York
    • ,
  • Pratibhasri A. Vardhana, M.D.

      Affiliations

    • Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, New York, New York
    • ,
  • Joyce W. Lustbader, M.D.

      Affiliations

    • Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, New York, New York
    • ,
  • Judith L. Fridovich-Keil, Ph.D.

      Affiliations

    • Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia
    • Corresponding Author InformationReprint requests: Judith L. Fridovich-Keil, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322 (FAX: 404 727-3949).

Received 28 February 2008; received in revised form 22 April 2008; accepted 23 April 2008. published online 05 August 2008.

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.

Key Words: Galactosemia, ovarian insufficiency, AMH, FSH, FSH bioactivity

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 This work was supported by National Institutes of Health research grant nos. R01DK059904 (to J.L.F.-K.) and RO1DK063224 (to J.W.L). R.D.S. was supported in part by training grant no. 2T32GM008367-16 from the National Institutes of Health (B. Shur and K. Wilkinson, co-principal investigators).

 R.D.S. and J.B.S. contributed equally to this work.

 R.D.S. has nothing to disclose. J.B.S. has nothing to disclose. M.P.E. has nothing to disclose. S.V.P. has nothing to disclose. P.A.V. has nothing to disclose. J.W.L. has nothing to disclose. J.L.F.-K. has nothing to disclose.

PII: S0015-0282(08)00971-0

doi:10.1016/j.fertnstert.2008.04.060

Fertility and Sterility
Volume 92, Issue 1 , Pages 344-351, July 2009

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