Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the 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.
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| http://dx.doi.org/10.1136/bcr-2019-229938 | DOI Listing |
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Article Synopsis
- Hemiscrotal agenesis is a rare condition where one side of the scrotum is not developed, often treated surgically with techniques like orchiopexy or scrotoplasty, although there are very few documented cases (only eight).
- A case study of a 6-year-old boy showed increased temperature in the undeveloped side of the scrotum, but his parents opted against surgery, and ultrasound tests showed both testes were normal.
- The findings suggest that the higher temperature in hemiscrotal agenesis without cryptorchidism might not hinder testicular growth in young boys.
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View Article and Find Full Text PDFHemiscrotal agenesis: a novel phenotype of a rare malformation.
BMC Pediatr
November 2020
Pathology, Alexandria Faculty of Medicine, Alexandria, Egypt.
Background: Hemiscrotal agenesis (HSA) is an exceedingly rare congenital anomaly in scrotal development. It is characterized by unilateral absence of scrotal skin with intact midline raphe. In the English literature, only seven patients were diagnosed with HSA.
View Article and Find Full Text PDFHemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature.
BMJ Case Rep
September 2019
Paediatric Surgery, John Hunter Children's Hospital, New Lambton Heights, New South Wales, Australia.
Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the 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.
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