Incidence and diagnoses of disorders of sex development in proximal hypospadias.

Abstract Background Evidence-based guidelines on evaluation of boys with proximal hypospadias for the possibility of a disorder of sex development (DSD) have yet to be developed. We aimed to investigate the incidence and diagnoses of DSD in patients with proximal hypospadias. Methods We retrospectively reviewed the records of consecutive boys who underwent proximal hypospadias repairs from 2006 to Sept 2017. Data collected included scrotal anomaly, testes position/palpability, micropenis, DSD investigations, and surgical techniques. Results 165 patients were eligible for the study. 14 (8.5%) were diagnosed to have DSD. The diagnoses were 46,XX testicular DSD [n = 1], 46,XY DSD [n = 7; partial gonadal dysgenesis (PGD) = 3; 5α-reductase type 2 deficiency = 3; 17α-hydroxylase deficiency = 1], Sex Chromosome DSD [n = 6; 45,X/46,XY PGD = 4; Klinefelter = 2]. 3/7 (43%) patients with PGD had gonadal germ cell neoplasms. Of the DSD patients, 6/14 (43%), 11/14 (79%) and 11/14 (79%) had undescended/impalpable testes, micropenis and penoscrotal transposition/bifid scrotum, respectively, significantly higher prevalence rates than those without DSD diagnosis (p-values Conclusions Patients presenting with proximal hypospadias and one or more of the coexisting anomalies of micropenis, undescended/impalpable testes, and penoscrotal transposition/bifid scrotum should warrant DSD evaluation. Presence of bilaterally descended testes in scrotum does not preclude the possibility of DSD. Level of evidence IV.