Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature
- Resource Type
- Authors
- Virginia M Turner; Himanshu Goel; Aniruddh V. Deshpande; Dilharan Eliezer
- Source
- BMJ Case Rep
- Subject
- Male
0301 basic medicine
medicine.medical_specialty
Foot Deformities, Congenital
Cleft Lip
education
030105 genetics & heredity
03 medical and health sciences
0302 clinical medicine
Rare Disease
Humans
Medicine
Abnormalities, Multiple
Van der Woude syndrome
Germ-Line Mutation
health care economics and organizations
Genetic Anomaly
Cysts
business.industry
Scrotoplasty
Infant, Newborn
General Medicine
medicine.disease
Phenotype
Dermatology
Lip
Pedigree
Midline defects
Cleft Palate
Popliteal pterygium syndrome
Orchiopexy
Agenesis
Interferon Regulatory Factors
Scrotum
IRF6
business
030217 neurology & neurosurgery
- Language
- ISSN
- 1757-790X
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.