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Author's response to commentary to ‘Fertility potential in 5α-reductase type 2 deficient males’

Published:October 14, 2022DOI:https://doi.org/10.1016/j.jpurol.2022.09.028
      We highly appreciate the authors' commentary on our recent article ‘Fertility potential in 5α-reductase type 2 deficient males’ published in ‘Journal of Pediatric Urology’. We would like to elaborate on the importance of genetically assessing not only severe, but also phenotypically milder cases of disorders of sexual development (DSD), in order to achieve an early diagnosis and create a future management plan, but also identify the likelihood of an inheritance pattern and predict potential future tumor risk in patients and their families [
      • Buonocore F.
      • Clifford-Mobley O.
      • King T.F.J.
      • Striglioni N.
      • Man E.
      • Suntharalingham J.P.
      • et al.
      Next-generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD.
      ].

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      References

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        • Clifford-Mobley O.
        • King T.F.J.
        • Striglioni N.
        • Man E.
        • Suntharalingham J.P.
        • et al.
        Next-generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD.
        J Endocr Soc. 2019; 3: 2341https://doi.org/10.1210/JS.2019-00306
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      Linked Article

      • Commentary to: Fertility potential in 5α-reductase type 2 deficient males
        Journal of Pediatric Urology
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          Markouli et al. report the results of a systematic review of the literature where they identified 9 individuals with a detected mutation in the 5α-reductase type 2 enzyme gene that subsequently were able to conceive in their adult life [1]. This manuscript highlights the importance of early genotyping to confirm diagnosis. Diagnostic workup of patients with differences in sexual development is guided based on phenotype assessment and the tendency is to genotype (gene panel, exome, genome and more recently long-read sequencing) cases with what the clinician interprets as “severe/classic phenotype” or those with possible syndromic features [2].
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