Aphallia

Aphallia is a congenital malformation where the phallus (penis or clitoris) is missing. In males, it is also referred to as penile agenesis. The term originates from Ancient Greek a- meaning 'not' and phallos meaning 'penis'. It is categorized as a disorder of sex development.

Causes

The cause of aphallia remains unknown. It is not associated with insufficient hormone levels or activity, but rather with the failure of the fetal genital tubercle to develop between 3 and 6 weeks post-conception. In affected children, the urethra opens on the perineum.

Diagnosis

Aphallia is typically diagnosed at birth by observing the usually ambiguous genital area.

Treatment

Other congenital anomalies such as cryptorchidism, renal agenesis/dysplasia, and musculoskeletal and cardiopulmonary anomalies are common (in over 50% of cases), necessitating an evaluation for internal anomalies. Although aphallia can occur in any body type, it poses a greater challenge for individuals with testes. Historically, it has sometimes been a reason to assign and rear a male infant as a girl, based on the outdated 1950s theory that gender as a social construct is purely nurture-based, allowing a child to be raised as either gender. Many advocacy groups strongly oppose coercive genital reassignment and advocate for leaving infants' genitals intact. The nurture theory has largely been abandoned, as attempts to rear children this way have not resulted in successful transitions. Current consensus recommends male gender assignment.

Recent advancements in surgical phalloplasty techniques offer additional options for those interested in surgery.

Incidence

Aphallia, or the absence of the penis, is an extremely rare congenital anomaly, with an estimated incidence of 1 in 10,000,000 births. It is rare, with only about 60 cases reported by 1989 and 75 by 2005. However, due to the stigma associated with the condition and challenges in maintaining accurate statistics and records among doctors, the actual number of cases is likely higher than reported.