Disorders of Sex Development and Pediatric Andrology
Core concepts
Understand the classification of disorders of sex development (DSD): 46,XX DSD (congenital adrenal hyperplasia most common), 46,XY DSD (androgen insensitivity, gonadal dysgenesis), and sex chromosome DSD (Turner, Klinefelter). Know the initial evaluation of ambiguous genitalia: history, examination, karyotype, hormone testing, and imaging. Recognize the importance of a multidisciplinary team and the timing of surgery. Andrology topics: hypospadias, undescended testis, varicocele, and testicular torsion. Understand the differences between prepubertal and pubertal testicular tumors. Know the evaluation of micropenis and the role of testosterone therapy.
Traps
- Assigning sex before completing the DSD evaluation.
- Missing congenital adrenal hyperplasia as a cause of 46,XX DSD with virilization.
- Assuming all ambiguous genitalia require immediate surgery.
- Confusing retractile testis with true cryptorchidism.
Worked example
A newborn with ambiguous genitalia and nonpalpable gonads should have karyotype and hormone testing before any surgical decision; congenital adrenal hyperplasia must be ruled out because of adrenal crisis risk.
Rule of thumb
In DSD, diagnose before assigning; in andrology, distinguish retractile from undescended and torsion from epididymitis.