Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation Françoise Paris, M.D., Ph.D.,

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Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation Françoise Paris, M.D., Ph.D., Pascal Philibert, Pharm.D., Serge Lumbroso, M.D., Ph.D., Pierre Baldet, M.D., Ph.D., Jean Pierre Charvet, M.D., René-Benoît Galifer, M.D., Ph.D., Charles Sultan, M.D., Ph.D. Fertility and Sterility Volume 88, Issue 5, Pages 1437.e21-1437.e25 (November 2007) DOI: 10.1016/j.fertnstert.2007.01.048 Copyright © 2007 American Society for Reproductive Medicine Terms and Conditions

Figure 1 A new point mutation within the HMG box of the SRY gene: thymine replaced by adenine at position +385 in codon 129, resulting in the replacement of the amino acid tyrosine (TAT) by asparagine (AAT). The sequence data from the patient's father did not reveal the presence of the mutation. Paris. 46,XY primary amenorrhea. Fertil Steril 2007. Fertility and Sterility 2007 88, 1437.e21-1437.e25DOI: (10.1016/j.fertnstert.2007.01.048) Copyright © 2007 American Society for Reproductive Medicine Terms and Conditions