LAUSR

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 <6 months old and underwent endocrine/genetic testing were included. Demographics, test results, testicular exam at presentation, comorbidities, and diagnoses were abstracted. RESULTS 1789 boys with hypospadias were identified. Of 131 boys with proximal hypospadias, all 60 who underwent endocrine/genetic evaluation were included. Most had bilateral palpable testes (52/60, 86%) that were fully descended (41/60, 68%). Associated anatomic anomalies were found in 53%. All boys underwent endocrine testing, which was completely typical for an infant male in most (41/60, 68%). Common genetic tests included karyotyping (100%), Microarray (38%), and multi-gene panel (13%). Genetic anomalies were found in 17 boys (28%): 7/41 (17%) with bilateral descended testes and 10/19 (53%) with ≥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.