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Updated: Jul 18, 2026
Z-Scores for Assessing Ovarian Reserve in Young Patients Undergoing Fertility Preservation
Published on: October 25, 2024
Growth differentiating factor-9 mutations may be associated with premature ovarian failure
Ertug Kovanci1, Jan Rohozinski, Joe Leigh Simpson
1Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.
Objective:
To determine whether perturbations of the growth differentiating factor-9 (GDF9) gene are associated with premature ovarian failure (POF).
Design:
Mutational analysis of the GDF9 gene in 61 women with POF.
Setting:
Academic institution.
Patient(S):
Sixty-one women with POF; 60 control women.
Intervention(S):
Peripheral blood sampling, genomic DNA extraction, mutational screening, and DNA sequencing.
Main Outcome Measure(S):
Genetic perturbations in GDF9 that are associated with POF.
Result(S):
A single missense mutation, substitution of a cytosine residue with thymidine in exon 1 of GDF9, was found in a white woman in whom POF developed at age 22. This mutation occurred in a highly conserved proprotein region and resulted in replacement of a nonpolar amino acid (proline) with a polar amino acid (serine) at position 103. Neither 60 control women nor 60 other women with POF demonstrated this genetic perturbation. Exon 2 showed only previously recognized single nucleotide polymorphisms.
Conclusion(S):
GDF9 mutations may be one explanation for POF, albeit uncommon.
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