|Year : 2017 | Volume
| Issue : 4 | Page : 268-269
Female megalourethra with imperforate anus: A rare presentation
Shalini Hegde, Monika Bawa
Department of Pediatric Surgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India
|Date of Web Publication||17-Oct-2017|
Department of Pediatric Surgery, Advanced Pediatric Center, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh
Source of Support: None, Conflict of Interest: None
Congenital megalourethra is a rare form of functional obstructive uropathy caused by dysgenesis of the penile corpora cavernosa and spongiosa. Megalourethra is usually described in males and rarely seen in disorders of sexual differentiation. A neonate presented to us with ambiguous genitalia, a megalourethra and imperforate anus. Genetically, the baby was 46XX and the presence of mullerian structures was confirmed during laparotomy. Hormonal workup for congenital adrenal hyperplasia was negative. Although the functional obstruction of the urethra was circumvented by a suprapubic cystostomy, the status of the upper tracts ultimately decided the fate of the child. The presence of crossed fused ectopia with dysplasia and hydronephrosis led to multiple bouts of urosepsis and rapid renal failure. Evaluation of renal as well as other systemic abnormalities is essential for prognosis and planning of treatment.
Keywords: Disorders of sexual differentiation, female, imperforate anus, intersex, megalourethra
|How to cite this article:|
Hegde S, Bawa M. Female megalourethra with imperforate anus: A rare presentation. J Clin Neonatol 2017;6:268-9
| Introduction|| |
Megalourethra is a rare congenital disorder of the anterior urethra and erectile tissue of penis. It is known to be associated with urinary and other system anomalies. Approximately 8%–9% of the cases of megalourethra are associated with imperforate anus. All cases described in literature refer to the male urethra. Megalourethra has been documented in female intersex, albeit in <10 cases. Similar to their male counterparts, female megalourethra can also present with imperforate anus and we could find only one other case published previously. Sex assignment and treatment of the cloacal abnormalities are additional steps to be undertaken besides treatment of the megalourethra.
| Case Report|| |
A full-term neonate, weighing 2.3 kg, presented on the 1st day of life with absent anal opening and dribbling of urine with an abnormal looking genitalia. The baby had a moderately distended abdomen with a flat bottom and an absent anal opening with no fistulous opening seen in the perineum. In addition, there was the presence of ambiguous genitalia with a large 6 cm × 5 cm phallus-like structure present in the midline without any corporal tissue. A meatus was present through which an infant feeding tube could be passed for 8–10 cm and seen to coil within [Figure 1]. Few drops of urine were drained. The renal function tests were deranged with blood urea 155 mg% and serum creatinine 1.9 mg%. Ultrasound abdomen revealed crossed fused ectopia with raised echogenicity and multiple cysts in upper moiety. The lower moiety had a ballooned-out pelvis with a dilated ureter till the lower end.
After initial stabilization, the child underwent a sigmoid colostomy and a suprapubic catheter insertion on day 2 of life. On laparotomy, a unicornuate uterus with left side ovary was noted. The baby was discharged with a functional stoma and an adequately draining suprapubic catheter on postoperative day 5. A karyotype analysis revealed that the child was a 46XX. 17-hydroxyprogesterone levels were normal. A suprapubic cystogram delineated a megalourethra [Figure 2]. The child had frequent bouts of urosepsis requiring multiple admissions and the renal functions were on the deteriorating trend. The child succumbed to renal failure 3 months after birth.
| Discussion|| |
Since its initial description, <100 cases of congenital megalourethra, between 16 weeks of gestation and 24 years of age, have been reported in the English literature and all have been described in the male newborn. Megalourethra in idiopathic female intersex is reported in <10 cases. The presence of imperforate anus suggests a diffuse teratogenic influence affecting early cloacal division (4–6 weeks) as well as later (after 12 weeks) affecting external genitalia. In the index case, there was no fistula noted in the perineum; hence, it can be labeled as “imperforate anus without fistula” as per Pena's classification of anorectal malformations in females.
Congenital megalourethra is a rare urogenital malformation characterized by dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. Congenital megalourethra is usually associated with other system anomalies, the most common being other urinary or anorectal malformations.
The ultimate prognosis depends on the status of the upper tracts once adequate drainage of urine is established. In patients who have ambiguous genitalia and survive early infancy, emphasis is sex determination and correction of urogenital or cloacal abnormality. Reduction urethroplasty with clitoroplasty and vaginoplasty may be undertaken at a later stage. Dilatation of female urethra is invariably required and subsequent repair of female hypospadias may be considered.,
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]