In which cases of proximal hypospadias detailed investigations are necessary

Area of Science:

• Pediatric Urology
• Endocrinology
• Genetics

Background:

• Hypospadias is a common congenital anomaly in male infants.
• Proximal hypospadias is associated with a higher incidence of Disorders of Sex Development (DSD).
• Understanding the specific physical and radiological findings in relation to DSD categories is essential for appropriate management.

Purpose of the Study:

• To compare physical examination and radiologic findings in patients with proximal hypospadias across different Disorders of Sex Development (DSD) groups.
• To identify specific clinical features associated with various DSD classifications in this patient cohort.

Main Methods:

• Retrospective analysis of 43 patients (0-18 years) with proximal hypospadias evaluated for DSD between 2005 and 2022.
• Review of patient demographics, physical examination findings (hypospadias type, chordee, micropenis), radiological findings, and diagnoses.
• Categorization of patients based on DSD groups (46,XY DSD, sex chromosome DSD, 46,XX DSD, other karyotypes).

Main Results:

• The study included 43 patients with proximal hypospadias, most commonly penoscrotal (n=19), scrotal (n=13), and perineal (n=11).
• Severe ventral chordee and micropenis were prevalent. 46,XY DSD was the most frequent diagnosis, followed by sex chromosome DSD, 46,XX DSD, and other karyotypes.
• Undescended testes and/or micropenis were common in the DSD group. Penoscrotal hypospadias occurred exclusively in the 46,XY DSD group, with no uterine remnants observed.

Conclusions:

• Patients with proximal hypospadias, particularly those with undescended testes and/or micropenis, require thorough evaluation prior to surgical intervention.
• Scrotal and perineal hypospadias warrant investigation for potential uterine remnants.
• DSD classification is critical in understanding the spectrum of findings associated with proximal hypospadias.