Introduction
Hypospadias and undescended testicles (UDT) are common congenital conditions, affecting approximately one in 125 and one in 33 boys, respectively. When patients present with both hypospadias and UDT, further workup is recommended to rule out differences in sex development (DSD). There has been limited contemporary data regarding the prevalence of DSD in patients with a history of both hypospadias and UDT. Our objective was to determine the prevalence of DSD among patients presenting with hypospadias and UDT.
Methods
A retrospective chart review was conducted on patients that were evaluated at Children’s Hospital Los Angeles from 2000–2022 with a diagnosis of hypospadias and UDT. The degree of hypospadias, presence of and palpability of UDT, and prevalence and type of DSD were recorded.
Results
A total of 177 patients were identified with both hypospadias and UDT, with 17/108 (15.7%) diagnosed with DSD. Proximal hypospadias made up only 58.5% of those without DSD vs. 100% of those with confirmed DSD (p=0.004). A significantly smaller proportion of DSD patients had palpable gonads compared to those without DSD (29.4% vs. 75.5%, p=0.0006). The most common etiology of DSD was mixed gonadal dysgenesis (35.3%; n=6).
Conclusions
Our analysis confirms higher incidence of DSD only among patients with proximal hypospadias. The existence of UDT in proximal hypospadias suggests need for DSD workup, with a higher likelihood of diagnosis when non-palpable UDT is present. Patients with glanular to midshaft hypospadias and UDT may not require further workup in the absence of other anomalies.
MP 4.1. Figure 1.

Flowchart of hypospadias location and testes palpability with DSD prevalence.
MP 4.1. Figure 2.
Pie chart illustrating breakdown of DSD etiology.
MP 4.1. Table 1.
Distribution of characteristics of patient cohort by DSD diagnosis (N=108)
| Confirmed DSD n=17 (15.3%) |
No DSD n=94 (84.7%) |
|
|---|---|---|
|
| ||
| Race/ethnicity (p=0.7969), n (%) | ||
| White | 3 (17.7) | 14 (14.9) |
| Black | 1 (5.9) | 1 (1.1) |
| Hispanic/Latino | 9 (52.9) | 51 (54.3) |
| Asian or Pacific Islander | 1 (5.9) | 10 (10.6) |
| Middle-Eastern | 0 (0.0) | 1 (1.1) |
| Other | 1 (5.9) | 8 (8.5) |
| Unknown | 2 (11.8) | 9 (9.6) |
|
| ||
| Location of hypospadias (p=0.0044 * ), n (%) | ||
| Proximal | 17 (100.0) | 55 (58.5) |
| Midshaft to distal | 0 (0.0) | 22 (23.4) |
| Glanular | 0 (0.0) | 16 (17.0) |
| Unknown | 0 (0.0) | 1 (1.1) |
|
| ||
| Unilateral vs. bilateral undescended testicle(s) (p=0.4053), n (%) | ||
| Unilateral | 11 (64.7) | 46 (48.9) |
| Bilateral | 6 (35.3) | 47 (50.0) |
| Unknown | 0 (0.0) | 1 (1.1) |
|
| ||
| Palpability of testes (p=0.0006 * ), n (%) | ||
| Palpable | 5 (29.4) | 71 (75.5) |
| 1/2 palpable | 3 (17.7) | 6 (6.4) |
| Non-palpable | 9 (52.9) | 14 (14.9) |
| Unknown | 0 (0.0) | 3 (3.2) |
Statistically significant. p-values indicate results of Fisher’s exact tests for difference in proportions between DSD and no DSD for each characteristic variable.















