Robinow Syndrome: Genital Analysis, Genetic Heterogeneity and Associated Psychological Impact
Jonathan Gerber, MD, Kunj R. Sheth, MD, Paul F. Austin, MD.
Texas Children's Hospital, Houston, TX, USA.
BACKGROUND: Robinow Syndrome (RS) is a rare genetic disorder characterized by short stature, craniofacial abnormalities, and deformities of the external genitalia. Emerging gene discoveries have identified several new RS-associated genetic mutations. We hypothesized that the genetic heterogeneity plays a role in the clinical variability of associated genital findings. Additionally we hypothesize that the phenotypic appearance of the genitalia with RS may have a psychological impact.
METHODS: 14 patients with genetically confirmed RS underwent phenotypic and genetic evaluation by visual sciences, endocrinology, plastic surgery, urology, genetics and psychology. Urologic-specific examination consisted of detailed genital exams and a nonvalidated questionnaire to investigate the psychological impact of genital phenotype amongst this group of patients. RESULTS: There were 10 males and 4 females studied. Nine males agreed to a full genital evaluation whereas none of the female patients consented. Average age was 20.8 years (4.99-51.3). Average penile length was 32.5mm (20-50), average stretched length was 53mm (20-70), and penile width averaged 24.4mm (15-30). Penile transposition to the scrotum occurred in all 9 male patients who allowed a full examination. Undescended testicles were noted in 4/10 males with testicular atrophy present in 5/10. Buried penis was seen in 7/9 males by exam or history of repair. Hypospadias was noted in 5/8, and a large inferior penopubic gap was seen in 5/8 males examined. One patient with a classic appearance of Robinow genitalia allowed for genital photography (Image 1).
We found 78% (7/9, eligibility based on age >10 due to sexual nature of the questionairre) answered our semi-quantitative questionnaire to evaluate self-perception of their genital appearance. The average score was 17.4 with a maximum achievable score of 30. CONCLUSIONS: RS has unique, hallmark genital findings that include penile transposition, buried penis, undescended testes, and large inferior pubic rami gaps. Genetic heterogeneity was present in our cohort with similar genital phenotypia seen within all mutations. In addition, we identified a significant psychological component associated with the patients' perception of their genital appearance as demonstrated by the results of our questionnaire, multiple patients refusing parts of the genital exam, and many voicing significant concern regarding the publication of genitalia photos. Recognition of this psychological aspect is important in the urological evaluation and management of patients with RS.
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