In Which Cases of Proximal Hypospadias Detailed Investigations Are Necessary

In 43 children with proximal hypospadias, every patient had severe ventral chordee and most had an underlying disorder of sex development requiring workup before surgery

Journal: Pediatric Surgery International | Published: 2026-03-04 | Type: Journal Article | PMID: 41779168 Authors: Aydınbaş Gökmen, Karaman Ayşe, Çetinkaya Semra, Karaman İbrahim (University of Health Sciences Turkey, Ankara Dr. Sami Ulus Children's Hospital — pediatric surgery and pediatric endocrinology) Funding/COI: No funding listed; no conflicts of interest declared

Summary

A retrospective chart review from a Turkish tertiary center examined 43 children (median age 4 months, range 1 day–14 years) with proximal hypospadias who underwent DSD evaluation over 17 years (2005–2022). The central argument is that undescended testes and/or micropenis accompanying proximal hypospadias should trigger full DSD investigation — including karyotype and imaging for uterine remnants — before any surgical repair. The paper's most concrete anatomical observation is that penoscrotal hypospadias appeared exclusively in the 46,XY DSD group, while scrotal and perineal variants were more likely to harbor uterine remnants.

Claims

• 43 patients total: 19 penoscrotal, 13 scrotal, 11 perineal hypospadias
• All 43 patients had severe ventral chordee; most also had micropenis
• 46,XY DSD was the most common diagnosis, followed by sex chromosome DSD, 46,XX DSD, and other karyotype anomalies
• Most patients in the DSD group had undescended testes and/or micropenis
• Penoscrotal hypospadias appeared exclusively in the 46,XY DSD group
• No uterine remnants were found in penoscrotal cases; scrotal and perineal presentations were the higher-risk group for uterine remnants

Study Quality

This is a retrospective chart review at a single center spanning 17 years. That long a window introduces substantial variability in diagnostic protocols and imaging availability. The sample of 43 patients is small even for a rare condition, and the paper does not report specific DSD subtype counts broken down by hypospadias location with actual numbers — claims like "most patients" are not quantified precisely, which obscures the strength of the anatomical associations.

A serious data integrity problem must be flagged: the full-text sections provided with this paper describe a prospective observational study at a tertiary center in Central India (February 2022–June 2023, n=40) — a completely different study from the abstract's Turkish retrospective cohort (2005–2022, n=43). Different country, different design, different enrollment period, different sample size. Either the publisher's database has mixed full-text sections from two separate papers, or there is an editorial error at the journal level. The numbers cited from the full text (35% DSD prevalence, five-alpha reductase deficiency as leading cause) should not be attributed to the Turkish study without independent verification of the published article.

Red Flags

• Critical data integrity issue: Abstract and full-text sections appear to describe two entirely different studies from different countries, designs, and time periods — do not cite the full-text statistics as belonging to this paper
• Single-center retrospective design with 17 years of potential protocol drift
• n=43 is inadequate for making robust anatomical classification claims
• No funding source disclosed; unclear whether systematic workup protocols were applied consistently across the full study period
• Effect sizes and counts are largely absent — "most patients" is not a number
• No comparison group of proximal hypospadias cases without DSD features

Strengths

• Proximal hypospadias is genuinely understudied; any systematic case series with DSD subtyping adds to thin literature
• Collaboration between pediatric surgery and pediatric endocrinology is the right design for this question
• Covers the full spectrum of proximal subtypes (penoscrotal, scrotal, perineal) rather than collapsing them
• Practical surgical question with direct pre-operative implications

Verdict

The clinical question — when does proximal hypospadias demand DSD workup before the knife? — matters. But a 43-patient retrospective chart review from one center over 17 years answers it weakly, and the finding that scrotal and perineal hypospadias warrant uterine remnant screening is already embedded in DSD guidelines, not a novel contribution. The data integrity problem with the full-text sections is the bigger story here: until the actual published PDF is verified, any numbers beyond the abstract should be treated as unreliable. Cite this paper only for its descriptive taxonomy of DSD subtypes by hypospadias location, and do so cautiously.