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Updated: Jan 23, 2026

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure
Susanne Ledig1, Albrecht Röpke, Gabriele Haeusler
1Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
Objective:
Premature ovarian failure (POF) is a heterogeneous group of diseases with amenorrhea before the age of 40 years and elevated gonadotropins. Recently, heterozygous mutations in the X-linked gene encoding bone morphogenetic protein-15 (BMP15) have been identified as a possible cause of ovarian failure.
Study Design:
Molecular analysis of BMP15, growth differentiation factor-9 (GDF9), and follicle-stimulating hormone receptor (FSHR) in patients with ovarian failure.
Results:
We can show that a BMP15 alteration, previously described as a mutation, is instead a polymorphism. A digenic inheritance of POF including BMP15 and FSHR is unlikely. Mutations in GDF9 could not be detected.
Conclusion:
Caution is recommended in the interpretation of BMP15 mutations in the context of POF.
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