Patients with 46,XY gonadal dysgenesis GD exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported.
The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. The rarity of our patient suggests the influence of modifier genes which exacerbated the testicular phenotype. Indeed, patient whole exome analysis revealed several potential modifiers expressed in Sertoli cells at the time of testis determination in mice.
We conclude that, in certain rare genetic contexts, maintaining normal levels of FGFR2 signaling is important for human testis determination. Oxford University Press is a department of the University of Oxford.
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Close mobile search navigation Article navigation. Abstract Patients with 46,XY gonadal dysgenesis GD exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. Published by Oxford University Press.
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Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Myo15
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FGFR2 mutation in 46,XY sex...
FGFR2 mutation in 46,XY sex reversal with craniosynostosis. Koopman P(4), Scherer G(7), Bartsch O(8), Eswarakumar JV(3), Harley VR(1). Author information : (1)Centre for Reproductive Health, Hudson Institute of Medical.
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