Abstract
The sex-determining region of the Y chromosome (SRY) gene initiates the process of male sex differentiation in mammalians. In humans, mutations in the SRY gene have been reported to account for 10-15% of the XY sex reversal cases. In this report we describe the clinical, endocrinological and molecular data of a patient with complete 46,XY gonadal dysgenesis caused by a de novo mutation affecting SRY amino acid phenylalanine at position 67 (F67L), located within the highly conserved high mobility group (HMG) box coding region of the gene.
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Zenteno, J.C., Carranza-Lira, S., Jiménez, A.L. et al. A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis. J Endocrinol Invest 26, 1117–1119 (2003). https://doi.org/10.1007/BF03345260
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DOI: https://doi.org/10.1007/BF03345260