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 [
[1]
].Keywords
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References
- 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
- Disorders of sex development: advances in genetic diagnosis and challenges in management.Adv Genomics Genet. 2015; 5: 165-177https://doi.org/10.2147/AGG.S53226
- Disorders of sexual development: current status and progress in the diagnostic approach.Curr Urol. 2019; 13: 169-178https://doi.org/10.1159/000499274
- DSDs: genetics, underlying pathologies and psychosexual differentiation.Nat Rev Endocrinol. 2014; 10: 603-615https://doi.org/10.1038/NRENDO.2014.130
- CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development.Fertil Steril. 2013; 99https://doi.org/10.1016/J.FERTNSTERT.2012.11.016
Article info
Publication history
Published online: October 14, 2022
Accepted:
September 26,
2022
Received:
September 26,
2022
Identification
Copyright
© 2022 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
ScienceDirect
Access this article on ScienceDirectLinked Article
- Commentary to: Fertility potential in 5α-reductase type 2 deficient malesJournal of Pediatric UrologyVol. 19Issue 1
- PreviewMarkouli 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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