International Urology and Nephrology 36: 213–216, 2004. © 2004 Kluwer Academic Publishers. Printed in the Netherlands.
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Penile agenesis and congenital hypertrophic pyloric stenosis: An association or a random coexistence? Aydin Yagmurlu, Rahsan Vargun, Gulnur Gollu & I. Haluk Gokcora Department of Pediatric Surgery, Ankara University, School of Medicine Ankara, Turkey
Abstract. A neonate with penile agenesis and congenital hypertrophic pyloric stenosis is presented. The patterns of associated anomalies with penile agenesis, and those of congenital hypertrophic pyloric stenosis are discussed. Key words: Congenital hypertrophic pyloric stenosis, Gender assignment, Genital reconstruction and penile agenesis
Introduction Penile agenesis (PA) is a rare disorder, believed to result from a developmental failure of the genital tubercle in the fourth week of embryogenesis, occurs once in every 10 to 30 million births [1]. It is frequently associated with other congenital anomalies particularly those affecting the genitourinary system and gastrointestinal tract [2, 3, 4, 5]. Yet it may coincide with congenital hypertrophic pyloric stenosis (CHPS), which is encountered more frequently.
Case report A genotypic male (46 XY) was born at 36 weeks’ gestation without a penis and with a normal scrotum and palpable testicles (Figure 1). The mother was 20 years old with a history of oligohydroamnios. The birth weight was 2500 g. A mixture of meconium and urine came from the anus in the first few hours following delivery, which indicated the presence of a urethralrectal fistula. Ultrasound examination showed normal appearing kidneys and urinary bladder. Rectoscopy was performed and a urethral catheter was placed through the urethral opening that was located just above the dentate line on the anterior rectal wall. Cystourethrogram showed a normal-appearing bladder, and a urethral-rectal fistula exiting just proximal to the dentate line. A magnetic resonance imaging (MRI) showed no erectile tissue (Figure 2), and the rest of the urogenital system appeared completely normal.
On the tenth day of life, following hospital ethics committee decision, the baby was assigned a female gender; bilateral gonadectomy revealed two normal testes histologically. Further to this, takedown of the urethral-rectal fistula, anterior transposition of the urethra, and reduction scrotoplasty to create labia and a vaginal introitus with a posterior sagittal approach was performed. Labia were formed using scrotal skin. The postoperative period was uneventful and she was discharged from the hospital on the 3rd postoperative day in consideration of vaginoplasty during puberty. The baby was readmitted with projectile nonbilious vomiting on postnatal 17th day. There was a tumor felt in the mid-epigastrium, just cephalad to the umbilicus near the spine on physical examination. Elongated and curved pyloric channel with parallel walls and the thickened muscle was noted on ultrasound examination and the diagnosis of CHPS was verified. There was no dehydratation or any sign of electrolyte disturbances. Pyloromyotomy was performed immediately and the child was discharged from the hospital uneventfully. The baby could void spontaneously with no problem, the child’s urethra could easily be calibrated with number 3 dilatators at 3 years follow-up (Figure 3). The radiologic imaging of the genitourinary system showed no abnormality.
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Figure 1. Absence of penis with a normal developed scrotum with descended testicles.
Conclusions Penile agenesis is thought to occur due to a failure of development of the genital tubercle [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. All reported cases to date have been sporadic, and the cause of most is unknown. Fewer than 100 cases have been documented with no evidence of familial transmission or history of any use of a teratogenic agent [4]. Exposures to potential teratogens, including estrogen/progesterone, etretinate, carbamazepine, alcohol and maternal diabetes have been noted [4]. Although it is difficult to consider as an etiologic factor, the only prenatally used drug was paracetamol in the present case. PA individuals frequently suffer from serious and often life-threatening associated anomalies [1]. Associated anomalies, involve developmental defects of the caudal axis, and genitourinary and gastrointestinal
anomalies [5]. Imperforate anus and Hirschsprung’s Disease occur relatively often [1], less common anomalies are considered as a part of the “axial mesoderm dysplasia” spectrum, including radial ray deficiencies and esophageal atresia [6]. Kessler and McLaughlin [7] reported the incidence of associated genitourinary anomalies with penile agenesis as a ratio of 54 percent. Genetic background and familial predisposition play an important role in CHPS in addition to its neuroendocrine potential origin [8]. In 1981 Atwell and Levick [9] demonstrated a high incidence of genetically determined renal anomalies such as duplex pelvicalycal system and vesicouretheral reflux. Genetically determined polycystic disease has been reported in association with CHPS. It is also stated that CHPS is increased in patients with nephroblastoma. There is also an increased incidence of hypospadias. It has also been pointed out that; the associations of renal anomalies with pyloric stenosis, which contribute to the cause of renal anomalies, also carry some of the genetic liability for CHPS [9].
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Figure 2. No erectile tissue was detected on axial T1 images.
Figure 3. Postoperative photograph at 3 years of age.
216 Hence, the present association of penile agenesis and congenital hypertrophic pyloric stenosis in this case may reflect the linkage of these two entities; further genetic analysis is required to verify such an association. As it is the first reported case in the current literature, it would be worthwhile to catalog the association of penile agenesis and congenital hypertrophic pyloric stenosis.
References 1. 2. 3.
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4. Evans JA, Erdile LB, Greenberg CR et al. Agenesis of the penis: patterns of associated malformations. Am J Med Genetics 1999; 84: 47–55. 5. Oesch IL, Pinter A, Ransley PG. Penile agenesis: A Report of six cases. J Pediatr Surg 1987; 22: 172–174. 6. Pavone L, Sciacca F, Gruttadauria G et al. Agenesis of the penis and penile urethra with anorectal atresia and type II esophageal atresia. Ann Pediatr (Paris) 1982; 29: 588–590. 7. Kessler WO, McLaughlin AP. Agenesis of the penis. Urology 1973; 1: 226. 8. Tota G. Hypertrophic stenosis of the pyloric canal, genetic and familial incidence. Pediatr Med Chir 1994; 16: 73–76. 9. Atwell JD, Levick P. Congenital hypertrophic pyloric stenosis and associated anomalies in the genitourinary tract. J Pediatr Surg 1981; 16: 1029–1035.
Address for correspondence: Aydin Yagmurlu, M.D., Ankara Universitesi Tip Fakultesi, Cocuk Cerrahisi Anabilim Dali, 06100 Dikimevi, Ankara, Turkey Phone: +90 (312) 362 3030/6199; Fax: +90 (312) 362 6400 E-mail:
[email protected]
