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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.

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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 Sexual health centre bartsch is distinct from Myo6Myo7a and pirouette genes in development of cochlear stereocilia. Related articles in Web of Science Google Scholar. Long-term exposure of xenoestrogens with environmental relevant concentrations disrupted spermatogenesis of zebrafish through altering sex hormone balance, stimulating germ cell proliferation, meiosis and enhancing apoptosis.