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Letter to Editor - Utility of genetic work-up for 46, XY patients with severe hypospadias

  • Hüseyin Özbey
    Correspondence
    Correspondence to: Hüseyin Özbey, Department of Pediatric Surgery, Division of Pediatric Urology and Andrology, Sechenov First Moscow State Medical University, Moscow, Russia, Tel.: +905325403720 (Mobile)
    Affiliations
    Department of Pediatric Surgery, Division of Pediatric Urology and Andrology, Sechenov First Moscow State Medical University, Moscow, Russia
    Search for articles by this author
  • Sachit Anand
    Affiliations
    Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India
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Published:December 17, 2022DOI:https://doi.org/10.1016/j.jpurol.2022.12.006
      It was really difficult for us to understand the context of this article, which we believe is a combination of clinical observations of hypospadias and scientific data from genetic studies [
      • Srivastava P.
      • Tenney J.
      • Lodish M.
      • Slavotinek A.
      • Baskin L.
      Utility of genetic work-up for 46, XY patients with severe hypospadias.
      ]. The authors have included a very small number of hypospadias patients with heterogeneous anatomy, and simply classify them as “standard” and "severe" hypospadias. As per the published literature, the classification of these cases as standard, or cases with a small glans size, etc., lacks a conclusive scientific/anatomical basis. It is sobering to see that the term “standard hypospadias” is not present in human anatomical and surgical texts. The authors could have utilized the normal anatomical characteristics of penis for a better segregation of these cases. Moreover, in this study, the clinical findings of the patients were termed as “anatomical characteristics”. However, the authors seem to show a departure from the normal postnatal anatomical characteristics of penis, e.g., septum glandis and frenulum. The septum glandis is a well-documented fibrous median partition of the glans penis and the frenulum is its epithelial extension to the foreskin [
      • Henle J.
      Anatomischer Hand-Atlas zum Gebrauch im Secirsaal (Band 6).
      ,
      • Putz R.
      • Pabst R.
      Sobotta atlas of human anatomy.
      ,
      • Özbey H.
      • Kumbasar A.
      Glans wings are separated ventrally by the septum glandis and frenulum penis: MRI documentation and surgical implications.
      ]. It is unfortunate to see that many surgeons (including the senior author) have shown a consistent denial in accepting these normal postnatal anatomical characteristics published hundreds of years ago [
      • Cunha G.R.
      • Sinclair A.
      • Cao M.
      • Baskin L.S.
      Development of the human prepuce and its innervation.
      ].
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      References

        • Srivastava P.
        • Tenney J.
        • Lodish M.
        • Slavotinek A.
        • Baskin L.
        Utility of genetic work-up for 46, XY patients with severe hypospadias.
        2022https://doi.org/10.1016/j.jpurol.2022.11.023
        • Henle J.
        Anatomischer Hand-Atlas zum Gebrauch im Secirsaal (Band 6).
        Eingeweide – Braunschweig, 1877 (Available via University Library Heidelberg. Available from:)
        • Putz R.
        • Pabst R.
        Sobotta atlas of human anatomy.
        14th ed. Munich: Elsevier, Urban & Fischer, Munich2006: 199
        • Özbey H.
        • Kumbasar A.
        Glans wings are separated ventrally by the septum glandis and frenulum penis: MRI documentation and surgical implications.
        Turkish J Urol. 2017; 43: 525-529https://doi.org/10.5152/tud.2017.00334
        • Cunha G.R.
        • Sinclair A.
        • Cao M.
        • Baskin L.S.
        Development of the human prepuce and its innervation.
        Differentiation. 2020; 111: 22-40https://doi.org/10.1016/j.diff.2019.10.002

      Linked Article

      • Utility of genetic work-up for 46, XY patients with severe hypospadias
        Journal of Pediatric Urology
        • Preview
          Hypospadias is a common congenital abnormality that has been increasing in prevalence over the last decades. Historically, 46, XY patients with severe hypospadias and descended scrotal testes at birth have frequently lacked a genetic diagnosis. Platforms for molecular genetic testing have become more readily available and can offer an insight into underlying genetic causes of severe hypospadias. The goal of this study was to define the anatomical characteristics of severe hypospadias that can accurately define patients with 46, XY severe hypospadias and determine the practical utility of performing molecular genetic testing in this group of patients.
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      • Response to: Letter to Editor - Utility of Genetic Work-Up for 46, XY Patients with Severe Hypospadias
        Journal of Pediatric Urology
        • Preview
          Hypospadias is a common congenital abnormality that has been increasing in prevalence over the last decades. Historically, 46,XY patients with severe hypospadias and descended scrotal testes at birth have frequently lacked a genetic diagnosis. Platforms for molecular genetic testing have become more readily available and can offer an insight into underlying genetic causes of severe hypospadias. The goal of this study was to define the anatomical characteristics of severe hypospadias that can accurately define patients with 46,XY severe hypospadias and determine the practical utility of performing molecular genetic testing in this group of patients.
        • Full-Text
        • PDF