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Case report
Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature
  1. Dilharan D Eliezer1,2,
  2. Himanshu Goel2,3,
  3. Virginia M Turner4 and
  4. Aniruddh Deshpande1,2,5
  1. 1 Paediatric Surgery, John Hunter Children’s Hospital, New Lambton Heights, New South Wales, Australia
  2. 2 Medicine and Public Health, University of Newcastle, Callaghan, New South Wales, Australia
  3. 3 Hunter Genetics, Waratah, Australia
  4. 4 Paediatric Medicine, John Hunter Children’s Hospital, New Lambton Heights, New South Wales, Australia
  5. 5 Urology, Sydney Children’s Hospital Network, Westmead, New South Wales, Australia
  1. Correspondence to Dr Dilharan D Eliezer, dhiva_eliezer{at}hotmail.com, dhivaeliezer{at}gmail.com

Abstract

Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the IRF6 which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and genital anomalies in PPS. We report a case of VWS with the previously unrecognised phenotypic feature of hemiscrotal agenesis. While bifid scrotum has been reported in the more severe PPS, neither VWS nor PPS have previously noted hemiscrotal agenesis as part of the phenotypic picture. Hemiscrotal agenesis without evidence of any genetic anomaly has only been reported four times in the literature to date with two of these being accompanied by complete testicular descent. Treatment options include topical androgen application and/or scrotoplasty to allow for adequate testicular thermoregulation and development to occur.

  • urological surgery
  • paediatric surgery
  • plastic and reconstructive surgery
  • infant health
  • genetics
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Footnotes

  • Contributors As first author, DDE was involved in all steps of manuscript development including conception, patient consent, drafting, editing and finalising of this submission. HG provided genetic advice which was important in the background, case presentation and discussion development. He also provided final editing support. VMT as part of the cleft palate group, provided advice on case presentation, discussion and editing. AD is the senior author and guarantor and was involved in the conception, clinical decision-making and literature review and final editing process.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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