Penile Agenesis: Definition, Causes, Impact, and Treatments

 Penile Agenesis is the rarest of rare birth defects that occur in males. According to healthcare, this is found only 1 in and around 10 to 30 million births. So far, only around 70 cases of Penile Agenesis are reported or published across the world. 

Definition of Penile Agenesis 

Penile Agenesis is also referred to as many other names, including Aphallia. Aphallia is a term taken from the Greek where "a" refers to "not" and "phallia" for phallus (penis). This means the absence of the penis. 

Penile agenesis is an extremely rare disorder associated with urogenital anomalies. It is a congenital malformation characterized by the complete absence of the penis in a male infant. Mostly, this is compatible with life while in some complex form cases, it can be incompatible with life. 

In most cases, penile agenesis is associated with absent urinary meatus and urethral atresia, but some cases might have urethra and meatus like a normal male. In some cases, caudal regression syndrome has also been found. 

Causes of Penile Agenesis 

The exact causes of penile agenesis are not known. However, it is believed that it occurs due to the complete absence of the genital tubercle or when it fails to develop. 

In the embryo, Leydig cells are responsible for converting gonads into testicles. But these cells fail in the case of testicular agenesis. Testes are solely responsible for the development of 5-alpha dihydrotestosterone (5aDHT). When the gonads fail to convert into testicles, there is no development of 5-DHT. This leads to penile and testicular agenesis in males. Hence, penile agenesis can occur due to testicular agenesis. 

Penile agenesis can also occur independently without testicular agenesis. In such cases, the causes are unknown. 

Impact Over Health 

Penile agenesis is not associated with severe disease or health conditions. It is only congenital malformation. However, it has a significant impact on the patient, especially mentally. 

Penile agenesis has a noticeable impact on the psychosexual structure of a male. The patient doesn't have the penis placed in its place right above the testicles. It also affects the urinary system and sex life of the patient. 

Patients with penile agenesis experience embarrassment, feel an extreme level of stress, and hesitate while communicating or getting in contact with the opposite gender. It affects their quality of life.

Treatments 

An urgent clinical surgery and intervention are required to enable urination and avoid internal irritation from urea concentrate. In this surgery, doctors redirect the urethra to the rim of the anus right after the birth of the child. 

A temporary phallus can be developed in patients with penile agenesis through a minimally-invasive surgical procedure called Scrotal Flap Phalloplasty (SFP). This surgical procedure is the primary technique for the creation of the temporary penis in patients. It is effective in early childhood. Additionally, it gives satisfactory cosmetic results in the psychosexual development of minors with penile agenesis.

For the creation of an adult-size definitive penis after the onset of puberty in patients with penile agenesis, other surgical techniques can be utilized. Sex reassignment to a female is not considered and recommended today. 

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