Proximal Hypospadias: Isolated Genital Condition or Marker of More?

PURPOSE: The prevalence of endocrine/genetic anomalies among boys with proximal hypospadias is unknown. This study aims to describe the endocrine/genetic evaluation for boys with proximal hypospadias to inform who may have a difference/disorder of sex development and/or benefit from additional testing. METHODS: Boys with hypospadias seen at our hospital from 1/2013-10/2018 were retrospectively reviewed. Those with proximal (penoscrotal, scrotal, perineal) hypospadias who presented at /=1 undescended testis (p=0.01). Most boys (6/8) with >/=1 non-palpable testis had a genetic anomaly (vs. 11/52 with bilateral palpable testes; p=0.005). Differences/disorders of sex development were found in 9 (15%). CONCLUSIONS: Among 60 boys with proximal hypospadias, 53% had non-genital anomalies, 28% had genetic anomalies, and 15% had a difference/disorder of sex development. Although endocrine testing was clinically useful, genetic testing was most diagnostically revealing. Endocrine/genetic evaluation should be considered for boys with proximal hypospadias.