We describe a novel mutation in the coding region of theSRY gene in a 46, XY female with Swyer syndrome. Analysis ofSRY was carried out by direct sequencing of a 780-bp PCR product that included theSRY open reading frame (ORF). This revealed the presence of a point mutation, ins 108A, in the coding region 5’ to the HMG box which results in a frame shift and premature termination of the encoded protein. No other mutation was found in theSRY ORF. We infer that sex reversal in this individual is a result of this insertion. In none of the 13 other 46, XY females that were studied was a mutation detected inSRY, confirming earlier findings that most cases of XY femaleness are due to causes other than mutation inSRY. These observations and those of others are discussed in relation to the aetiology of XY sex reversal.
Volume 102, 2023
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