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| CASE REPORT |
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| Year : 2015 | Volume
: 3
| Issue : 1 | Page : 13-16 |
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Aphallia: Case report and review of the literature
Amarendra Kumar, Nameer Faiz
Department of Surgery, Nalanda Medical College and Hospital, Patna, Bihar, India
| Date of Web Publication | 23-Mar-2015 |
Correspondence Address:
Nameer Faiz
Department of Surgery, Nalanda Medical College and Hospital, Patna - 800 007, Bihar
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/2320-3846.153801
Aphallia or absence of the penis is a very rare congenital anomaly with an estimated incidence of 1 in 10,000,000 births. A total of about 80 cases have been documented so far. We present a case of 1-day neonate who was born preterm at 30 weeks by normal vaginal delivery with a birth weight of 1.9 kg. The neonate's phallus was absent, the scrotum was normal with two normally descended testes with palpable vas deferens. Urethral meatus could not be located anywhere in the scrotum or over the pubis. Meconium was mixed with urine which was due to a urethrorectal fistula. Urethral opening was catheterized with 5 no. infant feeding tube. The neonate was in respiratory distress with tachypnea, tachycardia, central cyanosis, and bilateral coarse crepitations on auscultation. The patient was referred to the Neonatal Intensive Care Unit where the neonate was intubated and kept on a ventilator for neonatal respiratory distress syndrome.
Keywords: Aphallia, congenital anomaly, feminizing genitoplasty, neonatal respiratory distress syndrome, penile agenesis, sex re-assignment, urethrorectal fistula
How to cite this article:
Kumar A, Faiz N. Aphallia: Case report and review of the literature. Saudi Surg J 2015;3:13-6 |
| Introduction | |  |
Aphallia is an anomaly which results from the nonformation of the genital tubercle or its failure to develop, during the 4 th week of embryonic development accounting for its frequent association with related malformations. The urethra often opens at the anal verge adjacent to a small skin tag; in other cases, it opens into the rectum. [1] Penile agenesis is a very rare congenital anomaly which has an estimated incidence of 1 in 10,000,000-30,000,000 births. A total of about 80 cases have been documented in the literature so far. [2] Associated malformations are common and include cryptorchidism, vesicoureteral reflux, horseshoe kidney, renal agenesis, imperforate anus, and musculoskeletal and cardiopulmonary abnormalities. [1] Clinical presentation is diagnostic, but there are various other associated anorectal anomalies and other systemic anomalies which need to be investigated. Management is initially aimed toward treatment of any life threatening co-existing conditions. Definitive management is controversial; earlier there used to be a consensus on the classical management which is female gender reassignment by urethral perineal transposition, early bilateral orchiectomy with preservation of the scrotal skin, and feminizing genitoplasty in neonatal period followed by vaginoplasty at puberty. The recent trends focus on continuing the male sex by a urethral transposition and delayed phalloplasty which is surgically more challenging.
| Case Report | | |
A 1-day neonate was referred to us in the surgery outdoor for consultation by the department of Obstetrics and Gynecology. A detailed history was taken. The neonate was born preterm at 30 weeks by normal vaginal delivery. The birth weight was 1.9 kg. There was the absence of consanguinity among parents, no family history of other congenital anomaly. The neonate's mother was a 28-year-old primigravida with no history of use of any drugs or exposure to X-ray during pregnancy. Antenatal check-ups were done as per schedule.
Examination and case summary
The infant was duly examined. Examination of the face, head, neck, limbs, and trunk were apparently normal except absent phallus. There was mild distension in the abdomen. The neonate was in respiratory distress with tachypnea, tachycardia, and central cyanosis. There was use of accessory muscles of respiration, expiratory grunting, nasal flaring. On auscultation, he had bilateral ronchi and coarse crepitations with normal heart sounds. The neonate's phallus was absent, the scrotum was normal [[Figure 1]] with two normally descended testes with palpable vas deferens. There was no voiding per urethra as the urethral meatus could not be located anywhere in the scrotum or over the pubis. Upon inspection of the anal orifice, meconium was seen mixed with urine which was probably due to a urethrorectal fistula. No abnormality was detected on per rectal examination.
Investigations
An ultrasound was done, and there were no abnormal findings in kidney, ureter, and bladder system. Anoscopy revealed an opening where a squirt of urine could be seen on crying and straining by the neonate. The urethrorectal fistula was present proximal to the anal sphincter and hence classified as Presphincteric according to the Skoog and Belman classification. [1] Complete blood count and kidney function tests were within normal limits. Karyotyping facilities were unavailable. Chest X-ray was inconclusive with scattered ground glass opacities and a normal cardiac shadow.
Management
The neonate was initially resuscitated in the surgical emergency. Urethra was catheterized per rectally using a 5 no. infant feeding tube for proper urinary drainage. The patient was urgently referred to the pediatric emergency where the neonate was intubated and kept on a ventilator in Neonatal Intensive Care Unit and managed according to the neonatal resuscitation protocols. Attendants of patient were counseled regarding both the procedures of feminizing genitoplasty and male phalloplasty. Unfortunately, the neonate expired the next day due to cardiopulmonary arrest.
| Discussion | | |
The diagnosis of penile agenesis requires an absence of corpora cavernosa and corpora spongiosum with urethral opening anywhere in the perineum in midline, over pubis, anterior aspect of scrotum, or anterior to the anus or as an opening in the anterior wall of rectum. [3] Development of the caudal axis is initiated early in embryonic life. During 3 rd week of embryogenesis, mesodermal tissue from the region of the primitive streak migrates down about the cloacal membrane to form the cloacal folds. These folds unite in front of the cloacal membrane and form genital tubercle. While this occurs externally, the cloaca is divided internally into the anterior urogenital sinus and posterior rectum by the urorectal septum. As the embryo matures, the genital tubercle elongates, and the cloacal folds divide into the anterior urethral and posterior anal folds. The genital swelling appears at this time on either side of the cloacal folds, these swellings eventually will migrate caudally, coming together over the urethral folds and fusing at the median raphe to form the scrotum. The genital tubercle will fuse to form the urethra internally and the penis with its median raphe externally. [4] Penile agenesis is believed to be due to deficient formation of the genital tubercle or its failure to develop into a penis in the 4 th week of embryogenesis. This hypothesis seems to hold true in the usual case of penile agenesis with normal scrotal formation, normal median raphe development and perforate anus. In such situations, all structures of the caudal axis are preserved except for the penis itself. [4] In most cases, the urethral opening is located either on the perineum between the scrotum and anus or as a fistula to the gastrointestinal tract, typically to the rectum. [5] Aphallia is a very rare congenital anomaly; hence, the literature present is quite deficient regarding the associated congenital anomalies and their morbidity and mortality. It should be differentiated from concealed penis, rudimentary penis, micropenis, male pseudohermaphroditism and the intrauterine amputation of the penis. [4] Congenital anomalies like cryptorchidism, renal agenesis/dysplasia, musculoskeletal and cardiopulmonary anomalies are also common (>50% cases), hence evaluation of the patient for internal anomalies is mandatory. [6],[7] The literature available today is limited on the multitude of cardio-respiratory anomalies associated with this anomaly mainly due to the rarity of the case and also due to its associated high mortality. In a previous study, eight cases were reported and there was presence of congenital anomalies in five of the patients which included hydronephrosis, vesico urethral reflux, imperforate anus, cleft lip, cleft palate, beaked nose, low set ears, high arched plate, and prostate agenesis. [8] Skoog and Belman reviewed 60 reports of aphallia and suggested three variants, based on urethral position in relationship to the anal sphincter, as postsphincteric, presphincteric (prostatorectal fistula) and urethral atresia. [1] More proximal the bladder outlet, the higher the incidence of other anomalies and the greater the likelihood of neonatal death. In their study, 60% of patients had a postsphincteric meatus located on a peculiar appendage at the anal verge, and the mortality rate was 13%. Among the 28% of patients who had a presphincteric urethral communication (prostatorectal fistula), the mortality rate was 36%. In the 12% cases of urethral atresia, the mortality rate was 100%. The most likely cause of mortality in our case was low birth weight, preterm delivery, neonatal respiratory distress syndrome and probably some undetected co-existing congenital anomalies. The parents refused an autopsy; hence, further enquiry into the cause of death could not be done.
In addition to correction of life-threatening anomalies, the management of aphallia centers on two options. The classical management consists of urethral perineal transposition, early bilateral orchiectomy with preservation of the scrotal skin and feminizing genitoplasty in the neonatal period or at the time of presentation. [9] Early reconstruction helps the family to accept the neonate's gender status. Vaginoplasty is undertaken at the time of puberty along with estrogen therapy, for breast development and other female secondary sexual characters. Stolar et al. [10] were the first to use posterior sagittal approach and recommended orchiectomy and diverting colostomy with or without vesicostomy before 3 months of age, followed by repair of the urethrorectal fistula and vaginoplasty at 1-year of age. There used to be a general consensus that infants should undergo early gender assignment and be raised as girls, despite male karyotype. [11],[12]
But recently, a lot of interest is being seen in the concept of continuing the male gender. Urethral advancement transposition and male phalloplasty although being more surgically challenging has been done with success in many cases. Male gender assignment involves reconstructing a normally functioning penis which is esthetically acceptable, sexually functional (ability to penetrate), which provides tactile and erogenous sensation, adequate reproductive function, and the ability to urinate standing. [13]
Gender reassignment is ideally done in the neonatal period, otherwise, it is individualized according to age at presentation, sex of rearing, psychological evaluation of child and decision of the family. [14] Gender reassignment and surgical intervention, both classical and newer treatment approaches (phallus reconstruction) [13] should be undertaken only after thorough discussion with the parents with respect to future socio-sexual aspects, fertility of neonate and if they are not sure of the gender, they may be given time to think over it. [15],[16]
In our opinion, in newborn period or infancy, feminizing operations are recommended for treatment of penile agenesis, but after 2 years, as sexual identification of the patients has appeared, it is advised to perform masculinizing operations in order not to disturb the child psychologically.
| Acknowledgment | | |
I express my sincere regards and thanks to my father Dr. Aftab Faiz, Consultant Microbiologist, MCH, Makkah and Dr. Alauddin Alam, JR-2 (anaesthesia), NMCH for their support and encouragement throughout the process of manuscript writing, editing, and publication.
| References | | |
| 1. | Skoog SJ, Belman AB. Aphallia: Its classification and management. J Urol 1989;141:589-92.  |
| 2. | Walsh PC, Retik AB, Vaughan ED Jr, Wein AJ, editors. Campbell's Urology. Vol. 8. Saunders: Elsevier Science; 2002. p. 2343-5. |
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| 10. | Stolar CJ, Wiener ES, Hensle TW, Silen ML, Sukarochana K, Sieber WK, et al. Reconstruction of penile agenesis by a posterior sagittal approach. J Pediatr Surg 1987;22:1076-80. |
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| 13. | Bluebond-Langner R, Redett RJ. Phalloplasty in complete aphallia and ambiguous genitalia. Semin Plast Surg 2011;25:196-205. |
| 14. | 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. |
| 15. | Bangroo AK, Khetri R, Tiwari SH. Penile agenesis. J Indian Assoc Pediatr Surg 2005;10:256-7. |
| 16. | Diamond M, Sigmundson HK. Sex reassignment at birth. Long-term review and clinical implications. Arch Pediatr Adolesc Med 1997;151:298-304. |
[Figure 1]
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