Congenital aphallia: From embryology to management - a focused minireview

Figure 1 Embryogenesis of male external genitalia and pathogenesis of aphallia, illustrating normal genital tubercle development, androgen-driven differentiation and mechanisms leading to genital tubercle agenesis and ectopic urethral positioning. The figure layout was assisted by an artificial intelligence-based tool (NotebookLM); however, all scientific content, conceptualization, labeling and annotations were independently developed by the authors. SRY: Sex determining region Y; DHT: Dihydrotestosterone; SHH: Sonic hedgehog; FGF: Fibroblast growth factors.

Figure 2 An illustrative case of aphallia. A: Both testes in well‐developed scrotum, absent phallus and without any urinary opening or fistula; B: Narrow anal opening (black arrow marked) with no urinary fistula visualized at anal verge.

Figure 3 Diagnostic evaluation algorithm for a newborn with aphallia. Outlining stepwise clinical assessment, systemic investigations, imaging studies and endoscopic evaluation, culminating in multidisciplinary management. KUB: Kidney, ureter and bladder; 2D ECHO: 2-dimensional echocardiogram; CT: Computed tomography; MRI: Magnetic resonance imaging; VCUG: Voiding cystourethrography.