Indian Pediatrics - Editorial

Letters to the Editor

Indian Pediatrics 2003; 40:367-368

Aphallia

Aphallia is known to be a very rare congenital malformation, with an occurrence of 1 in every 30 million births; only 75 cases have been reported in the literature till recently(1). A one-day-old neonate was brought within hours of birth to our hospital with aphallia. The child was born of an uncomplicated pregnancy with no family history of any other congenital anomalies or consanguinity. Examination revealed a well child with an absent penis. The child had a normal scrotum with bilaterally descended testis and an anteriorly placed ectopic anus. There was absence of urethral meatus in the perineum; the urethra was later diagnosed to open high in the anterior anorectum. Ultra-sonography revealed bilaterally normal kidneys; this was confirmed with IVP at a later date.

The issue female gender assignment was discussed with the parents and consent was taken. Divided sigmoid colostomy for fecal diversion and bilateral orchiectomy through inguinal incisions were performed; the scrotal skin was preserved. Repositioning of the urethra through posterior sagittal approach was done at 8 months of age. Vaginal reconstruction, construction of labia majora using scrotal skin and closure of colostomy is planned at one year of age.

Aphallia or agenesis of the penis is the result of complete or partial developmental failure of the genital tubercle. Infants with aphallia should be raised as females. The testis are usually normal with normal testosterone production in response to human chorionic gonadotropin stimulation(2). This dictates that the gonadectomy should be performed before the postnatal testosterone surge takes place as this would lead to the psychological imprinting of the child as a male. The urethra should be transposed anteriorly and early bilateral gonadectomy should be performed. Behavioral problems and male psychological orientation in late childhood were seen in the patients where gonadectomies have been performed after the age of three months(3). The scrotal skin should be preserved for vaginal reconstruction at a later date. Estrogen therapy should be instituted to produce female secondary sexual characteristics at the time of normal puberty(2).

Besides reporting a rarity, this letter aims to sensitize the treating physicians to the need for an early surgical intervention in cases of aphallia. It is such an obvious anomaly that cannot be missed at birth but the referral is often surprisingly delayed(4). Although it may be difficult to convince the parents for a female gender assignment in our settings, it could still be possible to convince parents if such an option is offered immediately after birth of the child. Going by our experience with another three subjects not included in this report and that of other pediatric surgeons from India, we conclude that although uncommon, aphallia is probably an under-reported anomaly. Either these children are not brought for treatment or are brought so late in life to pediatric surgeons, that for obvious social reasons, the parents do not agree for any work up leave aside female gender assessment.

Y.K. Sarin,
A. Sinha,
Department of Pediatric Surgery,
Maulana Azad Medical College,
New Delhi 110 002.
E-mail: [email protected]

References

1. Hendren WH. The genetic male with absent penis and urethrorectal communication: experience with 5 patients. J Uro1 1997; 157: 1469-1474.

2. Gautier T, Salient J, Pella S, Immperto-Mc Ginley J, Peterson RE. Testicular function in 2 cases of penile agenesis. J Urol 1981; 126: 556-557.

3. Oesch IL, Pinter A, Ransley PG. Penile agenesis: A report of six cases. J Pediatr Surg 1987; 22: 172-174.

4. Pohlandth F, Kuhn H, Teller W, Thoma H. Penile agenesis: Female sex reassignment and psychotherapeutic managements of the parents. Dtsch Med Wochenschr 1974; 99: 2166-2171 (article in German).