X’EDIATRIC
COMPLETE NICOLE
PENOSCROTAL
COHEN-ADDAD,
ILANA W. ZARAFU, MONEER
UROLOGY
TRANSPOSITKD.
M.D.
M.D.
K. HANNA, M.D.
From the Department of Pediatrics and Urology, New Jersey Medical School, Newark, New Jersey
patient with complete penoscrotal transposition is described. We believe this repABSTRACT-A resents the first such case associated with a chromosomal anomaly. A review of the literature is given,
Complete transposition of the penis is rare. Only 7 such cases of true prepenile scrotum with full development of both organs have been reported in the literature (Table I).‘-’ We describe herein an eighth case of complete penile transposition with normal scrotum, which we believe to be the first to be associated with a chromosomal anomaly. Case Report A black male infant was born on April 29, 1981, at thirty-seven weeks gestation by emergency cesarean section for placenta previa to a thirty-eight-year-old black female (gravida 5, para 4, miscarriage 1 in first trimester, with bleeding). The mother denied any illness, drug intake, or exposure to radiation during this pregnancy, except for some mild pedal edema. Apgar scores were 3 and 8. An endotracheal tube was inserted and left in place for the first few days because of stridor associated with respiratory distress. The physical examination revealed a 3,120Gm infant with large anterior fontanelle (8 by 4 cm), flat nasal bridge, deep-set eyes, and micrognathia. A grade II systolic murmur was heard at the left upper sternal border. The abdomen was distended, but not tense, with a freely mobile mass on superficial palpation of the left upper and mid side. His legs were in the frog position. There was a single umbilical ar-
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tery. The scrotum was prepenile but otherwise of normal appearance, without bifidity. The penis measured 1.8 cm, and a hypospadiac subglandular large meatal opening was located to the left side of the penile shaft about 1 cm from its tip. The testicles were impalpable within the scrotal sac (Fig. 1A). Ultrasonography of the abdomen showed a hydronephrosis of the left kidney and an ectopic pelvic right kidney. On renal scan, the left kidney was poorly functioning, and its drainage was impaired due to ureteropelvic obstruction which was subsequently confirmed by antegrade nephrostogram (Fig. 1B). The right kidney was not visualized. Retrograde cystography demonstrated a large peculiar-shaped bladder with a cone-shaped urachal structure extending anteriorly (Fig. 1C). Chest x-ray films revealed moderate cardiomegaly. Echocardiogram showed some enlargement of the left atrium. Chromosomal analysis established the presence of a mosaic trisomy 18 (8% trisomy 18 cell line). After an initial suprapubic tap removing 200 cc of urine on admission to the nursery a urethral catheter was inserted, but poor urine drainage was noted. Left percutaneous nephrostomy was performed on the third day to decompress the hydronephrotic left kidney. The nephrostomy tube was removed on the nineteenth day since it became nonfunctional. The diagnosis of mosaic trisomy 18 was made at one
149
1. (A) Complete penoscrotal transposition. (B) Antegrade nephrostogram of left kidney shows ureteropelvic junction obstruction. (C) Retrograde cystogram shows large bladder diverticulum and urachal extension.
FIGCRE
week of age. Since this condition is invariably associated with mental retardation, even when the percentage of abnormal cells is low, the decision was made in agreement with the parents not to intervene surgically. The renal status deteriorated progressively, and the infant died at three weeks of age in renal failure with hypertension, cardiac failure, and bronchopneumonia.
Pathologic findings The autopsy revealed a complete transposition of the hypospadiac penis posterior to a normal nonbifid scrotum, bilateral renal dysplasia with a small right kidney and an atretic right TABLE
1.
True penoscrotal transposition with normal scrotum
Series
1923, Appleby! 1935, Hontan" 1935, Hinman" 1951, Huffman"
1955, McIlvoy and Harris" 1961, Burkitt"
1966, Remzf
150
Abstracts Adult, carcinoma of sigmoid colon, short-webbed penis, normal erection, no hypospadias,normal scrotum, married, 4 children Three years old, normal scrotum, hypospadias, penis slightly smaller than normal, normallipiodol study Stillborn, well-developed scrotum, descended testes, long penis Newborn, no median raphe on scrotum, both testicles present, pendulous penis (7 em long), normal meatus and glans, right cystic kidney, ureters opening into bowels (?), died at 19 days of renal failure 110m months old, narrow penis (8 em long), large diverticulum of prostatic urethra Three days old, Indian, normal scrotum, 2 testicles, penis much longer than normal, glans completely exposed, no urine, no evidence of urethra nor distended bladder, no rectovesicular fistula, left radial aplasia with rudimentary thumb and absent first metacarpal, died after 10 days of anuria since birth, no autopsy Eleven years old, empty scrotum, right inguinal gonad, no left gonad palpated, narrow penis (7-8 em long), hypospadias, CVU: large diverticulum right side of bladder, trabeculation of bladder walls, reflux to left kidney, died of renal failure and infecion
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TABLE II.
Complete
penoscrotal
transposition
Broman’” Campbell9 Gross’” McGuire”
1954, SanchezI
1958, Chappell12
1968, Mukherji’” 1974. Leb et al. I4
Several months old (illustration only) Eighteen months old (illustration only) Newborn, imperforate anus (illustration only) Forty years old, penis 6.5 cm long, normal size testicles. normal IVP and CVU, married, one child Eight years old, normal testicles, IVP: piriform bladder deviated toward left, dilated right ureter. no visible communication with bladder, tuberculous peritonitis Six weeks old, testes in scrotum, hypospadias, IVP: only right kidney visualized and normal bladder, absent right forearm and short left forearm, absent radii in family Seven years old, normal testicles in scrotum. pendulous penis (7.5 cm long), mild epispadias One-day-old premature infant (BW: 2,430 Cm), bifid scrotum. normal size descended testes, penis (1 cm long), severe hypospadias, Klippel-Feil anomalad, hypoplastic left heart. persistent left superior vena cava, single umbilical artery, horseshoe kidney, cartilage in renal tissue, megaureters, right ureter opening directly into urethra.
ureter, a hydronephrotic left kidney partially covered by an external cyst and a left ureteropelvic stricture. The upper segment of the bladder was a diverticulum protruding posteriorly and upward. Its lower segment was trabeculated and thick-walled. There was a bulbar urethral diverticulum. The right testicle hanged from a thick cord attached to the urachal cord. The left testicle, located in the left lower retroperitoneal cavity, with a short cord, had no apparent connection with any other structure. The rest of the autopsy confirmed the large anterior fontanelle, the small retracted lower jaw, the deep-set eyes, and the cardiac hypertrophy. In addition, hypersegmentation of the sternum, retraction of the rib cage, and a possible thrombus in the right atrium were found. The appendix was absent. Comment This case represents a true penoscrotal transposition with normal, nonbifid scrotum and hypospadiac penis. Trisomy 18 has been associated with hypospadias and bifid scrotum but not with prepenile scrotum.s The combination of complete penile transposition and chromosoma1 anomaly has not been reported previously. In many of the reported cases, chromosomal analysis was not performed, and it is conceivable that some of the earlier cases may have had trisomy 18 or other chromosomal anomalies.
~RoL,o(:~
Al’CUST 198s
bifid scrotum
Abstracts
Series 1911, 1951, 1953, 1954,
with
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Among the 7 other reported cases of complete penile transposition with normal scrotum, 5 presented with inferred or proved anomalies of the urinary tract and a long penis.3m7The other 2 are assumed to have had normal urinary tracts: Appleby’s’ patient died in adulthood of a carcinoma of the sigmoid colon and, in Hontan’? case, a lipiodol study was normal. A second group of complete penile transposition but with bifid scrotum (8 cases to date) is summarized in Table II.gm16 Various genitourinary anomalies were described in this group, but apparently no chromosomal abnormalities were recorded. The location of the scrotum cephalad to the penis is a normal occurrence in marsupials (pouched mammals without placenta) and in Tupaias (lowest of the Primates). In intermediate Primates, like Tarsius, the scrotum is in the parapenile position. This ontologic observation adds further weight to the embryologic hypothesis: at four months’ gestation, there is a caudal shift of the scrotal swellings with fusion to form a definitive scrotal sac posterior to the penis. A failure of this shift produces the aforementioned anatomic arrangement. Another group of 4 cases has been purposely classified separately from the aforementioned (Table III). 17-20They all have a deformity of the pelvis with backward projection of the coccyx. In these cases, the anatomy of the whole pelvis has been altered, the change having probably occurred prior to one month postconception; as
151
TABLE
III.
Penoscrotal transposition with posterior pelvis deformity
Series
Abstract
1940, Francis”
1941, MeyerI
1954, Gualtieri
and Segalr”
1972. MilleP
Four weeks premature, oligohydramnios, large scrotum with median raphe, penis with rudimentary glans and prepuce, no penile urethra, coccyx projected backward, died after 47 min. Autopsy: no urinary system, atresia of part of descending colon, imperforate anus, single umbilical artery, extensive subarachnoid hemorrhage Eight weeks premature, stillborn, small empty scrotum, dorsally projected penis, rudimentary pelvis, no right lower leg, rudimentary right thigh, no urethra, bladder, or ureters, no anus or rectum, testes in abdomen Newborn, postscrotal penis, well-formed scrotum containing testes, fetal lobulation of right kidney, absence of left kidney, ureter and adrenal, normal bladder, urethral meatus present, atrophy of left leg and thigh, right talipes equinovarus, hydrocephalus, anus present, died at 2 months Four weeks premature, scrotum with median raphe, 3 x 0.8-cm penis caudad to it, urethral meatus present, no anus, absence of renal structure, ureter or bladder, no urethra, calcaneovalgus deformities, malsegmentation from third lumbar vertebras to coccyx inclusively, only two umbilical vessels, hypoplastic lungs, colon dilated from ileocecal valve to blind pouch, subarachnoid hemorrhage, survived 79 minutes.
suggested by the histologic analyses of tissue location done in Meyer’P case. Surgical correction of penile transposition is done for cosmetic and psychologic reasons, although the urinary and sexual functions are not impeded by the anatomic inversion as shown in the case described by Appleby’ where the adult was married and had four children. Two types of surgery have been described. In the first type, the scrotum is bisected and both halves are reunited by suturing beneath the penisal A second approach consists of a subcutaneous tunneling of the penis anteriorly through orifices created both in the inferior and superior portions of the scrotal sac in midline.5 Newark, (DR.
100 Bergen Street New Jersey 07103 COHEN-ADDAD)
References 1. Appleby
LH: Synchronous Can Med Assoc J 13: 514 (1923).
rupture
of bilateral
ectopics,
2. Hontan ES: Una rara deformidad congenita de1 aparato genital, Pediatr Esp 24: 344 (1935). 3. Hinman F: Princioles and Practice of Urologv. -, Philadeluhia. W. B. Saunders Co., 1935, p 1071. 4. Huffman LF: A case of prepenile scrotum, J Urol 65: 141 (1951).
152
5. McIlvoy DB, and Harris HS: Transposition of the penis and scrotum: case report, ibid 73: 540 (1955). 6. Burkitt D: Transposition of the scrotum and penis, Br J Surg 48: 460 (1961). 7. Remzi D: Transposition of penis and scrotum, J Urol 19: 555 (1966). 8. Smith DW: Recognizable Patterns of Human Malformations, ed 3, Philadelphia, W. B. Saunders Co., 1982, p 15. 9. Campbell M: Clinical Pediatrics Urology, Philadelphia, W. B. Saunders Co., 1951, p 274; 1954, p 397; 1970, p 1,576. 10. Gross RE: Surgery of Infancy and Childhood, Philadelphia, W. B. Saunders Co., 1953, p 353. 11. McGuire NG: Prepenile scrotum, Br J Surg 42: 203 (1954). 12. ChaDDell BS: Transoosition of external genitalia in a case with Fan&m-type deformity, J Urol 79: 115 (r958). 13. Mukherii DR: Transposition of the scrotum and the penis, case report, Indian J Surg 20: 516 (1968). 14. Leb <, 1. Denes .., 1. and Goracz G: Tobbszoros Feilodesiri Rendellenesseggel Szovodott Transpositio Penis et Scroti, Orvosi Hetilap 115: 2299 (1974). 15. Sanchez MG: Un extrano case de malformation congenita: escroto prepeneano, Arch Esp Urol 10: 115 (1954). 16. Broman I: Normale und Abnorme Entwicklung des Mensthen. Wiesbaden, Verlag von J. F. Bergmann, 1911, p 506. 17. Francis CC: A case of prepenial scrotum (marsupial type of genitalia) associated with absence of urinary system, Anat Ret 76: 303 (1940). 18. Meyer R: Dislocation of the phallus, penis and clitoris, following pelvic malformations in the human fetus, ibid 79: 231 (1941). 19. Gualtieri T, and Segal AD: Prepenile scrotum in a double monster, teratological considerations; the hazards of radiation, J Urol 71: 488 (1954). 20. Miller SF: Transposition of the external genitalia associated with the syndrome of caudal regression, ibid 108: 818 (1972).
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