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Penile Agenesis (Aphallia) A Case Report

Mohammad Refaei¹, Mohamed Abdel Al Bakheet², Saleh Al Rowally¹
¹Pediatric Surgery Department, Arar Central Hospital, Kingdom of Saudi Arabia,
²Department of Pediatrics, Sohag University Hospital, Egypt
³Department of Pediatrics, Arar Central Hospital, Kingdom of Saudi Arabia

 

Correspondence

Mohammad Refaei, HOD & Consultant Pediatric Surgeon
Arar Central Hospital,
P.O.Box.1938,
Arar City
Northern Region, Kingdom of Saudi Arabia.
E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.

 

 

Abstract

We present a 31 day old infant referred to us due to absence of penis. The child looked normally developed and examination of the heart, lungs, abdomen, head and neck were all normal. The child's phallus was absent, the scrotum was normal with two normally descended testes with palpable vas deferens. There was voiding per urethra.. The urethral meatus was located between the well developed bifid scrotum over the pubis. Renal ultrasonographies, intravenous urography, chest x-ray and antegrade cystography were normal. Buccal smear was consistent with male genotype and chromosomal studies revealed a normal karyotype 46XY. Cystourethrogram performed through urethral opening showed normal appearing bladder and no urethrorectal fistula. Barium meal and enema revealed normal gastro-intestinal tract pattern.

Key words: aphallia; penile agenesis

 

 

Introduction

Penile agenesis (PA) is an extremely rare anomaly with profound urological and psychological consequences. It is a rare condition with only approximately 60 cases reported in 1989 [1] and 75 cases in 2005[2]. The opening of the urethra could be either over the pubis or at any point on perineum or most frequently on the anterior wall of the rectum. The aim of the treatment is an early female gender assignment and feminizing reconstruction of the perineum[3].

Case Presentation

History:

A 31 day old Syrian infant was referred to us due to absence of penis. The child was born by normal vaginal delivery, the parents belonging to the same extended family. The birth weight was 3.9 kg. There was no history of such anomaly in the parents’ families. The child’s mother was a young normal lady with no history of use of any drugs or exposure to x-ray during pregnancy.

On physical examination:

The child looked normally developed and examination of the heart, lungs, abdomen, head and neck were all normal. Neither dysmorphic features nor other congenital anomalies were detected. The child’s phallus was absent, the scrotum was normal with two normally descended testes with palpable vas deferens ( fig. 1). There was voiding per urethra. The voided urine was clear and not mixed with fecal material .The urethral meatus was located between the well-developed bifid scrotum, over the pubis. Patient was not able to expel urine at the meatus in a forceful stream. The anus was normally located with normal defecation. No abnormality detected by per rectal examination and no fecal incontinence. Normal perineum.

aphalia 1 aphalia 2
Fig. 1. Baby with absent penis Fig. 2. Urethral opening and anus

 

Investigations:

Abdominal and renal ultrasonographies, intravenous pyelogram, chest x-ray, were normal. Buccal smear was consistent with male genotype, and chromosomal studies revealed a normal karyotype 46XY. Laboratory tests including hormonal assay were unremarkable. Cystourethrogram performed through urethral opening showed normal appearing bladder and no urethrorectal fistula detected. Barium meal and enema study revealed normal gastro-intestinal tract pattern.

Plan:

Despite of the practical problems of reconstructing a normally functioning penis, one of the options is rearing such child as male because the social stigma for female in our society may be much greater. An unmarried female had a worse position in our society than an unmarried male.

Discussion

Aphallia is a rare birth defect of unknown cause. It is not linked to deficient hormone amounts or action, but rather to a failure of the fetal genital tubercle to form between 3 and 6 weeks after conception. The urethra of an affected child opens on the perineum. Although aphallia can occur in both males and females, it is considered a substantially more troublesome problem in a male and had in the past sometimes been considered justification for assigning and rearing a genetically male infant as a girl. Recent advances in surgical phalloplasty techniques have provided additional options [4, 5]. Our case is a 31 day old Syrian infant who presented to us at Pediatrics Clinic with complete absence of penis but absolutely normally developed scrotum and bilaterally descended normal sized testes. The baby was passing stool through a normally located anus and urine through a separate opening. The patient had normal intravenous urography and renal ultrasound scans. Sex identity was established by Barr body, positive Y-chromosomes and normal 46 XY karyotype. It is embryologically caused by maldevelopment of genital tubercle [2].

This anomaly usually coexists with other anomalies, which are incompatible with normal life such as bladder and renal agenesis. Associated genitourinary anomalies are seen in up to 54% of the patients. In most cases, aphallia is associated with communication of the urinary tract and rectum, which can be at the anal verge or higher. Skoog and Belman proposed a classification system for penile agenesis where it has been emphasized that the position of the urethral opening has a bearing on the prognosis. A more proximal urethral opening results in a greater number of associated anomalies and higher mortality [6, 7, 9]. The diagnosis of this abnormality includes: complete absence of corpora cavernosa and corpus spongiosum and opening of the urethra in perineum near the anus or into the rectum [12, 13]. It should be differentiate from concealed penis, rudimentary penis, micropenis, male pseudohermaphroditism and intrauterine amputation of the penis [12]. Concerning the treatment, if the case was brought in infancy, feminizing operations are indicated [3].

The prognosis depends not only on the associated cardiac or renal anomalies but also on the location of the urethral opening [2]. The urethral opening is either present in front of the anal opening through a skin tag or on anterior wall of anal canal. The anomaly may be due to a deficient formation of the genital tubercle or failure of development of the upper cloacal structures at and above the level of entry of the mesonephric ducts at 6 weeks of intra-uterine life [8, 10].

Conclusion

Agenesis of the penis is a very rare anomaly with reported inci¬dence of 1/10 to 1/30 million births. Most of the surgeons prefer feminizing operations in newborns or infants, but in older patients, regarding the child’s psychology, it is advised to perform masculinizing operations and finally, no surgical intervention should be undertaken before counseling the parents. However, despite of the practical problems of reconstructing a normally functioning penis, one of the options is rearing such children as males because the social stigma for females in our society may be much greater. Unmarried male can be far better in life than an unmarried female.

 

 

 

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