Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.

@article{Berra2011RecognitionO5,
  title={Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.},
  author={Mariela Mart{\'i}n Berra and Emma L. Williams and Barbara Muroni and Sarah Margaret Creighton and John William Honour and Gill Rumsby and Gerard S. Conway},
  journal={European journal of endocrinology},
  year={2011},
  volume={164 6},
  pages={
          1019-25
        }
}
CONTEXT The late presentation of steroid 5α-reductase-2 (SRD5A2) deficiency in females is poorly characterised. The ratios of 5α/5β-reduced metabolites of adrenal steroids in a urine steroid profile (USP) can give an indication of SRD5A2 deficiency, although the diagnostic cut-off for 5α/5β ratios are not clearly defined in genetically confirmed cases. OBJECTIVE The aim of this study was to establish the frequency of SRD5A2 deficiency in an adult clinic for disorders of sexual development… CONTINUE READING

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