|Year : 2016 | Volume
| Issue : 1 | Page : 55-57
A rare case report of aphallia with Horse-shoe kidney
Kalane Shilpa, Joshi Rajan, Rajhans Arati
Department of Neonatology, Deenanath Mangeshkar Hospital, Pune, Maharashtra, India
|Date of Web Publication||6-Jan-2016|
Department of Neonatology, Superspeciality Building, Deenanath Mangeshkar Hospital, Pune - 411004, Maharashtra
Source of Support: None, Conflict of Interest: None
Aphallia (Penile agenesis) is a very rare genitourinary anomaly that has profound surgical and psychological implications. Aphallia cases have 46, XY karyotype, except one reported case of penile agenesis having XX/XY mosaic karyotype. Early assignment of female gender and feminizing reconstruction of the perineum is the goal of treatment in cases of penile agenesis. This disorder results from partial or complete failure of development of genital tubercle. It usually coexists with other serious anomalies, which are incompatible with normal life. We present here with a 1 day old neonate who presented with aphallia and urethro-rectal fistula along with horse shoe kidney.
Keywords: Aphallia, horse-shoe kidney, penile agenesis, urethra-rectal fistula
|How to cite this article:|
Shilpa K, Rajan J, Arati R. A rare case report of aphallia with Horse-shoe kidney. J Clin Neonatol 2016;5:55-7
| 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 and 75 cases in 2005. 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.
| Case Report|| |
A 1-day-old neonate was referred to us due to absence of penis. Baby was born by normal vaginal delivery, birth weight was 1.7 kg. Last trimester sonography showed horse-shoe kidney. There was no history of such anomaly in the parents' families. The child's mother was a 28-year-old normal primigravida with no history of use of any drugs or exposure to X-ray during pregnancy.
On examination, vitals were stable, systolic murmur was present in parasternal area and examination of lungs, abdomen, and head and neck were all normal. Neither dysmorphic features nor other congenital anomalies were detected. Baby's phallus was absent, the scrotum was normal with two normally descended testes with palpable vas deferens [Figure 1]. There was voiding per urethra. The urethral meatus was located at anal verge [Figure 2].
Chest X-ray and infantogram were normal. Abdominal ultrasonography showed horse-shoe kidney without with left side mild hydronephrosis. Echocardiography showed small mid muscular ventricular septal defect. Chromosomal studies revealed a normal karyotype 46 XY. Laboratory tests including hormonal assay were unremarkable. Cystourethrogram performed through urethral opening showed normal appearing bladder and no urethrorectal fistula detected.
Despite 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. Parents were counseled in detail about available management options, however they refused further management.
| 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., Our case is a 1-day-old neonate who presented to us with complete absence of penis but absolutely normally developed scrotum and bilaterally descended normal sized testes. The baby was passing urine and stool through a normally located anus. Ultrasonography abdomen showed horse-shoe kidney. Sex identity was established normal 46 XY karyotype. It is embryologically caused by maldevelopment of genital tubercle.
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 our case, baby had horse-shoe kidney and ventricular septal defect. We searched literature but could not found similar case report. In most cases, aphallia is associated with communication of the urinary tract and rectum, which can be at the anal verge or higher, like in present case. Skoog and Belman proposed a classification system for PA 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.,,, 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., It should be differentiate from concealed penis, rudimentary penis, micropenis, male pseudohermaphroditism, and intrauterine amputation of the penis. Concerning the treatment, if the case was brought in infancy, feminizing operations are indicated.
The prognosis depends not only on the associated cardiac or renal anomalies but also on the location of the urethral opening. 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 intrauterine life.
| Conclusion|| |
Agenesis of the penis is a very rare anomaly with reported incidence of 1/10–1/30 million births. It is associated with various congenital anomalies. 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 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.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Skoog SJ, Belman AB. Aphallia: its classification and management. J Urol 1989;141:589-92.
Chibber PJ, Shah HN, Jain P, Yadav P. Male gender assignment in aphallia: a case report and review of the literature. Int Urol Nephrol 2005;37:317-9.
Mirshemirani A, Khaleghnejad A, Pourang H, Sadeghian N, Rouzrokh M, Salehpour S, et al
. Penile agenesis: Report on 8 cases and review of literature. Iran J Pediatr 2009;19:173-9.
De Castro R, Merlini E, Rigamonti W, Macedo A Jr. Phalloplasty and urethroplasty in children with penile agenesis: preliminary report. J Urol 2007;177:1112-6.
Descamps MJ, Hayes PM, Hudson DA. Phalloplasty in complete aphallia: pedicled anterolateral thigh flap. J Plast Reconstr Aesthet Surg 2009;62:e51-4.
Soderdahl DW, Brosman SA, Goodwin WE. Penile agenesis. J Urol 1972;108:496-9.
Shamsa A, Kajbafzadeh AM, Javad Parizadeh SM, Zare MA, Abolbashari M. Aphallia associated with urethro-rectal fistula and stones in the bladder and urethra. Saudi J Kidney Dis Transpl 2008;19:435-8.
Merrot T, Chaumoitre K, Alessandrini P. Aphallia: Pediatr Surg Int 2007;23:1131-3.
Berry SA, Johnson DE, Thompson TR. Agenesis of the penis, scrotal raphe, and anus in one of monoamniotic twins. Teratology 1984;29:173-6.
Bangroo A, Khetri R, Tiwari S. Penile agenesis. J Indian Assoc Pediatr Surg 2005;10:256-7.
Skandalakis JE, Gray SW, Broacher B. Themale reproductive tract. In: Skandalakis JE, Gray SW, editors. The Embryonic Basis for the Treatment of Congenital Anomalies. Baltimore: Williams's and Wilkins; 1994.p. 733.77, 789.91.
[Figure 1], [Figure 2]