Incidence and diagnoses of disorders of sex development in proximal hypospadias

J Pediatr Surg. 2018 Dec;53(12):2498-2501. doi: 10.1016/j.jpedsurg.2018.08.010. Epub 2018 Sep 1.


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 <0.05). 10/14 (71.4%) DSD patients underwent 2-stage repair compared with 57/151 (37.7%) of others without DSD diagnosis (p = 0.01).

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.

Keywords: DSD; Disorder of sex development; Proximal hypospadias.

MeSH terms

  • Disorders of Sex Development / complications
  • Disorders of Sex Development / diagnosis
  • Disorders of Sex Development / epidemiology*
  • Genitalia, Male / abnormalities
  • Humans
  • Hypospadias / complications*
  • Hypospadias / surgery
  • Incidence
  • Infant
  • Male
  • Retrospective Studies
  • Sexual Development