Abstract
We report on a familiar case of two sisters with 46,XY DSD and non-consanguineous parents. Both sisters have a complete inconspicuous female appearance. Testes were detected in the elder sister at 10yrs during herniotomy. Chromosomal analysis revealed a normal 46,XY karyotype. A labial fusion was detected in her younger sister and a familiar case of 46,XY DSD was suspected and confirmed by SRY-PCR in both. Testing showed no increase in testosterone synthesis after 3 consecutive doses of hCG, indicating a testosterone synthesis defect or Leydig cell hypoplasia. Gonadal dysgenesis was excluded because of absence of a uterus in combination with complete female external genitalia. Hormone profiling and Sanger sequencing excluded a defect in SRD5A1, HSD17B3, NR5A1 or AR. Further CGH-array analysis also revealed no common CNVs between both sisters.
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