Clinical meaning
Urethral development occurs between weeks 8-14 of gestation through androgen-dependent fusion of the urethral folds over the urethral plate. Dihydrotestosterone (DHT), converted from testosterone by 5-alpha reductase in genital skin, drives this closure from proximal to distal. Hypospadias results from insufficient DHT signaling due to genetic mutations (SRD5A2, AR gene variants), placental insufficiency reducing hCG-driven fetal testosterone, or environmental endocrine disruptors. Posterior hypospadias may indicate broader anomalies of sex development (46,XY DSD). The clinician evaluates severity, prescribes pre-operative testosterone therapy for severe cases, manages post-operative complications, and coordinates long-term urological follow-up including fertility implications.
Diagnosis & workup
Diagnostics & workup: - Classify severity: Type I (anterior: glanular, coronal), Type II (middle: distal/mid-shaft), Type III (posterior: proximal shaft, penoscrotal, perineal) - Order karyotype and endocrine evaluation for posterior hypospadias with cryptorchidism - Measure testosterone, DHT, 17-hydroxyprogesterone, and androstenedione for suspected DSD - Order renal-bladder ultrasound (10-15% have upper tract anomalies in severe cases) - Evaluate post-repair uroflowmetry to assess urethral caliber and stream - Monitor for post-operative complications: fistula rate 5-20%, stricture rate 5-10% - Order voiding cystourethrogram if recurrent UTIs post-repair