Aphallia - Causes, Symptoms, Diagnosis and Treatment

What Is Aphallia?

Aphallia or absence of penis is a very rare congenital anomaly. It is estimated to be occurring in 1 in 10 million live births. Aphallia is caused due to the failure of the genital tubercle to form or to develop fully. Complete penile agenesis (aphallia) is very rare; only around 80 cases have been reported to date.

More than half of the cases of aphallia have associated anomalies like cardiovascular, caudal axis, genitourinary, and gastrointestinal abnormalities. The penile agenesis linked with bilateral vesicoureteral reflux, vesicorectal fistula, or adrenal insufficiency has not been reported in any infant until now.

Aphallia can occur alone or may be associated with other congenital anomalies. Various associated congenital abnormalities have been reported with aphallia in the literature. Genitourinary anomalies have also been seen in up to 54 % of the patients.

What Are the Other Congenital Anomalies Associated With Aphallia?

The other congenital anomalies associated with aphallia are:

• Cryptorchidism.

• Renal agenesis.

• Horseshoe kidney.

• Dysplasia.

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What Can Be the Symptoms of Aphallia?

Aphallia is a congenital malformation with psychological consequences. It is an anomaly that occurs during the fourth week of embryonic gestation, with the related malformations. It occurs due to the failure of the genital tubercle to form or to develop completely.

Generally, people with aphallia will have well-developed scrotum with bilaterally descended testes without a penile shaft. The urethral opening will often be on the anal verge adjacent to a small skin tag; otherwise, it may be present in the rectum.

What Are the Causes of Aphallia?

Aphallia has no known cause. It is thought to occur due to either the absence or the failure of the fetal genital tubercle to develop fully between three weeks and six weeks after conception. The urethra of an affected child would open on the perineum. It can also be considered to be associated with the level of hormones and chromosomal rearrangements.

What Is the Differential Diagnosis for Aphallia?

The differential diagnosis includes:

• Concealed penis.

• Rudimentary penis.

• Micropenis.

• Male pseudohermaphroditism.

• Intrauterine amputation of the penis.

How to Diagnose Aphallia?

The diagnosis of aphallia is easy at birth since the penis is absent. But, some cases were diagnosed late. Therefore, assessment of the patient for internal anomalies is necessary. The basic investigations required for diagnosing aphallia are karyotyping, serum testosterone, a measure of 17-hydroxyprogesterone, and serum dihydrotestosterone levels, an abdominal ultrasound scan to find out female internal organs, and other genitourinary malformations, and a scrotal ultrasound to confirm the presence of testes.

Usually, a digital rectal examination will reveal the urethral meatus opening in the anterior wall of the rectum posterior to the sphincter. Magnetic resonance imaging will show a complete absence of penile development with normal testes, scrotum, and the urethra, which runs posterior to the prostatic apex and corpus spongiosum in sagittal and coronal T2-weighted images. In girls with severe urinary tract dysplasia and characteristic genital uncertainty, aphallia should be considered. Co-occurrence of aphallia and severe urinary tract dysplasia should be further diagnosed with urinary tract imaging in all aphallia patients, including renal bladder ultrasound, voiding cystourethrography, and serum creatinine level.

How to Treat Aphallia?

The classical treatment for aphallia includes performing female gender assignment with initial feminizing genitoplasty for infants followed by vaginoplasty (reconstruction of a vagina) later in life. Hormonal therapy, started around the time of puberty and continued throughout life, is another component of the traditional treatment of this condition. Treatment generally performed is feminizing genitoplasty or, in very few cases, phalloplasty.

Issues like gender reassignment need parental counseling. Clinical presentation is diagnostic whether to have immediate or long-term management creates a great dilemma. Due to social reasons, parents have difficulty in giving consent for the classical management of gender reassignment.

However, with better penile reconstruction techniques, now there is hope for such parents who want to bring up their child as a boy. Feminizing operations in newborns or infants and masculinizing procedures after parental counseling are being recommended.

The treatment is multi-staged and includes female gender reassignment.

• Bilateral orchiectomy urethral perineal transposition and feminizing genitoplasty is done in the newborn period.

• Vaginoplasty is done at an older age of 5 years or 6 years.

• Hormonal therapy is an integral part of management, starting at puberty and continuing lifelong.

• In males, urinary tract reconstruction may be performed without hindering future penile reconstruction due to modern phallic reconstructive techniques.

If aphallia is diagnosed earlier, feminizing genitoplasty is often recommended, along with bilateral orchiectomy before the age of 3 months, including an estrogen therapy at the age of puberty, with psychological observation. If aphallia is diagnosed at a later stage late, then phalloplasty is recommended to reduce psychological trauma for both the child and parents. The ultimate choice is made by the parents.

Conclusion

The birth of a child with aphallia can put any parent in a highly delicate situation. Therefore, the doctor should reassure them by proposing therapeutic options that include feminizing genitoplasty and phalloplasty.

Certain parents prefer to have only boys rather than girls, even when the boy presents a complex genitourinary malformation. If parents have this attitude, then cystostomy will be performed first, followed by the transposition of the urethra while waiting for the phalloplasty, which can be performed at the age of puberty.

In the two therapeutic methods, feminizing genitoplasty is more straightforward to perform than phalloplasty. This is because phalloplasty requires a multidisciplinary team and possesses some disadvantages, including functional and esthetic sequelae and intolerance to the transplant.