Congenital aphallia: From embryology to management - a focused minireview

Table 1 Comparative summary of aphallia and its differential diagnoses, highlighting differences in penile structure, urethral anatomy, associated anomalies, karyotype, and key distinguishing clinical features

Features	Aphallia	Micropenis	Concealed or buried penis	Disorders of sex development	Intrauterine penile amputation
Penile structure	Completely absent	Present but very small (< -2.5 SD)	Normal but hidden	Variable, often ambiguous	Previously formed, now absent
Corpora cavernosa	Absent	Present	Present	Usually present (variable)	May be partially present/remnants
Urethral opening	Ectopic (perineal/rectal) or absent	Normal location	Normal location	Variable/ambiguous	May be abnormal or scarred
Scrotum & testes	Usually well developed; testes present or undescended	Usually, normal	Normal	Variable (may be ambiguous)	Usually, normal
Karyotype	Typically, 46 XY	46 XY	46 XY	Variable (46 XY/46 XX/mosaic)	Usually, 46 XY
Hormonal status	Typically, normal male pattern	Often abnormal (endocrine cause)	Normal	Abnormal or discordant	Usually, normal
Associated anomalies	Common (> 50%)	May have endocrine disorders	Rare	Common (genitourinary/internal)	Usually isolated or with amniotic band defects
Key distinguishing features	Complete absence of penis	Small but present penis	Hidden but normal penis	Ambiguous genitalia	Evidence of prior penile development
Management approach	Complex reconstruction + multidisciplinary care	Hormonal therapy ± surgery	Reassurance, surgical correction (rarely)	Multidisciplinary (endocrine + surgical)	Reconstructive surgery