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True Hermaphrodite: A Case Report
THE JOURNAL OF UROLOGY
Vol. 89, No. 3 March 1963 Copyright © 1963 by The Williams & Wilkins Co. Printed in U.S.A.
TRUE HERMAPHRODITE: A CASE REPORT MICHAEL W. JUSTICE, SAM T. KNAPPENBERGER
AND
RALPH J. VEENEMA
From the Squier Urological Clinic, Columbia University, The Babies Hospital, New York, N. Y. and U. S. Pitblic Health Service Hospital, Staten Island, N. Y.
The existence of intersex has been recognized since antiquity. Grecian statues with female escutcheon and external genitalia of a male demonstrate this cognizance. 1 Isolated reports were the only available material for study of this condition prior to 1937. At that time Hugh Hampton Young recognized that pseudohermaphroditism was by far the most common form of intersex, and that some criteria should be established for the determination of true intersex. He demanded that each case should have microscopic evidence of both gonadal tissues before a diagnosis of true intersex could be made. Of the large number of case reports available, Young was able to find only 21 cases that met his standards for true herrnaphroditism. 1 This established the precedent for diagnostic criteria in the field of intersex which has been adhered to by all subsequent observers. Following Young's monograph, the subject was reviewed by Mciver in 1944. 2 He added 2 cases of his own which increased the reported cases to 37. In a tabulation of individual case reports by Overzier in 1955 a total of 74 cases were reviewed. 3 A subsequent review was made in 1959 by Lewis (at Letterman Army Hospital) who reported his second case, bringing the literature to 89 proven cases.4 Austerman and Beach reported 2 cases from Brooke Army Hospital in Iviarch 1961, Vaughn and Gonzales-Angulo reported a case from Baylor University in December 1961, bringing the total number of cases reported to 92. 5-6
The most common form of this rare condition is that of ovotestis either unilateral or bilateral and with indeterminate external genitalia such as cleft scrotum and hypospadiac phallus. Less often seen is the lateralized form in which the elements of one sex are contained in one side of the pelvis, or inguinal canal, and those of the opposite sex in the contralateral side. 7 , 8 Most observers will agree that the increased index of suspicion for true intersex should be entertained in the presence of 1) undescended testicle (particularly with hypospadias), 2) cyclic hematuria and 3) breast hypertrophy concomitant with undescended testicle. 4 • 7 The latter 2 findings represent puberal changes and are therefore of no value in pre-puberal individuals. Sex chromatin has been evaluated in a few cases of true hermaphroditism. Eleven cases have shown male pattern and 24 cases demonstrated female chromatin. 4- 6 • 9 The presence of a normal penis is quite unusual in true hermaphroditism, Five such cases have been observed. 2 • 10 - 13 CASE REPORT
M. L., No. 1331105, an S;i-year-olcl Jewish boy, was seen by the pediatric urology service, Squier Urological Clinic, Columbia-Presbyterian Medical Center, because of complaints of right undescended testicle. The defect had been present since birth, whereas the left scrotal compartment had been normal. Administration of 10,000 units of chorionic gonadotrophin for 1 week during August 1957 failed to produce testicular descent. Another course of 10,000 units over a 6-week period was likewise unsuccessful.
Accepted for publication September 4, 1962. 1 Young, H. H.: Congenital Abnormalities, 7 Grumbach, M. M. and Barr, M. L. Cytologic Hermaphroditism and Related Adrenal Disease. tests of chromosomal sex in relation to sexual Baltimore: The Williams and Wilkins Co., 1937. anomalies in man. Recent Progr. Hormone Res., 2 Mclver, R. B., Seabaugh, D.R. and Mangels, M., Jr.: True hermaphroditism. A report of two 14: 255-324; discussion, pp. 324-34, 1958. 8 Young, H. H.: Operative treatment of true cases. J. Ural., 52: 67, 1944. hermaphroditism. Arch. Surg., 41: 557, 1940. 3 Overzier, C.: Acta Endocrinologica, 20: 63, 9 Moore, K. L., Graham, M.A. and Barr, JVI. L.: 1955. Surg., Gynec & Obst., 96: 641, 1953. 4 Lewis, E. L.: A true hermaphrodite, clinical 10 DelVIoura, A. C. and Basto, L. P.: True herand psychological study. J. Urol., 81: 309, 1959. maphroditism. J. Urol., 56: 725, 1946. 5 Austerman, W. and Beach, P. D.: True her11 Atakam, A. M.: A case of hermaphrodisum maphroditism, with a report of two cases. J. Ural., masculinus internus. Ann Surg., 140: 216, 1954 . 85: 345, 1961. 12 Hommes, J. H.: Zentralblatt f. Chirurgie, 6 Vaughn, J. and Gonzales-Angulo, A.: True hermaphrodite with ovarian tumor. J. Urol., 86: 79: 593, 1954. 13 Bani, U.: Policlinico sez. prat., 63: 238, 1956. 776, 1961. 483
484
JUSTICE, KNAPPENBERGER AND VEENEMA
Fm. 1. Sketch of findings at operation. A, oviduct. B, ovary. C, uterus. D, atrophic scrotal compartment. E, normal scrotal compartment. F, normal meatus. The child was admitted to Babies Hospital June 7, 1959 for orchiopexy. Past history revealed that he was the product of a full-term pregnancy, low forceps delivery, and weighing 5 pounds 4 ounces. His development was normal. Immunizations: Diphtheria, poliomyelitis, small pox. Operations: tonsillectomy and adenoidectomy. Previous illness: measles age 6, chicken pox, 4 months prior to admission. System review: not remarkable. The patient appeared to be a well nourished white boy of development consistent with age and in no distress. Pulse 84, respiration 20, blood pressure 94/60, weight 29.8 kilograms. Skin: normal turgor; a healing abrasion of the right elbow. Cardiovascular: normal sinus rhythm was present with a grade 2 apical blowing systolic murmur loudest at the right base but heard over the entire precordium. There was no diastolic component and no demonstrable cardiomegaly. Extremities: the fingers were somewhat tapered but otherwise not remarkable. Neurological examination was not remarkable. Rectal: the prostate was not definitely felt. Genitalia: penis was circumcised and the mea tus was in normal position. The right scrotal compartment was atrophic and no testicle could be palpated either in the scrotum or in the inguinal canal. The left scrotal compartment contained an apparently normal testicle and epididymis.
Hemoglobin was 12.3 gm. and white blood cell count was 8,850 with 60 per cent neutrophils, 34 per cent lymphocytes, 3 per cent monocytes, 3 per cent eosinophils. Urinalysis was negative and non-protein nitrogen 31 mg. per cent. Chest x-ray was negative; electrocardiogram was within normal limits. The buccal smear showed a male chromatin pattern. Excretory urogram, gravity cystogram and voiding urethrogram were normal. On June 11 the right groin was explored with the intention of performing an orchiopexy. At the level of the internal ring, a hernial sac was found and opened. Instead of a testicle, there was a tubular structure with a fimbriated end resembling a fallopian tube. The incision was extended to gain access to the peritoneal cavity. A definite mesosalpinx contained a pink mass 1 by 0.5 cm. resembling a small ovary. In addition, the suspected oviduct was found to emanate from a triangular mass of dense consistency, strongly resembling a diminutive uterus. A tiny bosselation was noted on the opposite side of this mass, in a position where a contralateral oviduct would be expected to attach (fig. 1). The suspected uterus tapered distally toward the culde-sac but disappeared into a filmy fibrous strand with no connection to the prostatic urethra. A thorough search of the pelvis revealed no other abnormal structures.
TRUE HERMAPHRODITE
485
Fm. 2. A, ovary shows small follicle. B, testicle
It became evident that the identity of the left gonad should be established; therefore the left scrotal compartment was opened. A grossly normal testis, epididymis and vas deferens were found. A biopsy of the testis was taken. The mtillerian elements in the right groin were totally removed, and the wound was closed in
layers. The convalescence was uneventful. The patient was discharged 10 days following the operation. Microscopic examination of the removed tissues confirmed the suspected identity of both gonadal elements. A section of ovary with a small follicle and a section of testicular biopsy are shown in
486
JUSTICE, KNAPPENBERGER AND VEENEMA
Fm. 3. Full front view of patient figure 2. The oviduct and uterus were likewise positively identified. Although the complete lateralization and normal phallus are rare in true intersex, they leave no problem of decision in therapy (figs. 3 and 4). The patient never showed any behavioral or emotional patterns other than a normal child of his age. Including this case, there have been 12 cases of true intersex reported with male chromatin and 24 with female, making a ratio of 1 to 2. SUMMARY A case of true hermaphroditism which brings the total to 93 cases has been reported. Complete lateralization was found and the case reported is the sixth known one to have a normal penis. Sex chromatin was reported as male.
Fm. 4. Perineal view shows normal position of meatus. The authors gratefully acknowledge the valuable advice and technical assistance of Dr. A. C. Uson in preparation of this report. REFERENCES DAVIS, D. M. AND ScHEFFEY, L. C.: A case of true hermaphroditism. J. Urol., 56: 715, 1946. ENGLE, E.T., YEAW, R. C. AND LA'.rTIMER, J. K.: True hermaphroditism; supplementary report of a case. J. Urol., 56: 731, 1946. HAMPSON, J. G.: Hermaphroditic genital appearance, rearing and eroticism. Bull. Johns Hopkins Hosp., 96: 265, 1955. MARSHALL, V. F. and associates: True hermaphroditism; a conference on the management of one patient. J. Urol., 72: 77, 1954. STIRLING, W. C.: A report of a case of true hermaphroditism. J. Urol., 56: 720, 1946. WEED, J. c., SEGALOFF, A., WIENER, w. B. AND DoUGLAS, J. W.: True hermaphroditism. J. Clin. Endocrinol., 7: 741, 1947.
Vol. 89, No. 3 March 1963 Copyright © 1963 by The Williams & Wilkins Co. Printed in U.S.A.
TRUE HERMAPHRODITE: A CASE REPORT MICHAEL W. JUSTICE, SAM T. KNAPPENBERGER
AND
RALPH J. VEENEMA
From the Squier Urological Clinic, Columbia University, The Babies Hospital, New York, N. Y. and U. S. Pitblic Health Service Hospital, Staten Island, N. Y.
The existence of intersex has been recognized since antiquity. Grecian statues with female escutcheon and external genitalia of a male demonstrate this cognizance. 1 Isolated reports were the only available material for study of this condition prior to 1937. At that time Hugh Hampton Young recognized that pseudohermaphroditism was by far the most common form of intersex, and that some criteria should be established for the determination of true intersex. He demanded that each case should have microscopic evidence of both gonadal tissues before a diagnosis of true intersex could be made. Of the large number of case reports available, Young was able to find only 21 cases that met his standards for true herrnaphroditism. 1 This established the precedent for diagnostic criteria in the field of intersex which has been adhered to by all subsequent observers. Following Young's monograph, the subject was reviewed by Mciver in 1944. 2 He added 2 cases of his own which increased the reported cases to 37. In a tabulation of individual case reports by Overzier in 1955 a total of 74 cases were reviewed. 3 A subsequent review was made in 1959 by Lewis (at Letterman Army Hospital) who reported his second case, bringing the literature to 89 proven cases.4 Austerman and Beach reported 2 cases from Brooke Army Hospital in Iviarch 1961, Vaughn and Gonzales-Angulo reported a case from Baylor University in December 1961, bringing the total number of cases reported to 92. 5-6
The most common form of this rare condition is that of ovotestis either unilateral or bilateral and with indeterminate external genitalia such as cleft scrotum and hypospadiac phallus. Less often seen is the lateralized form in which the elements of one sex are contained in one side of the pelvis, or inguinal canal, and those of the opposite sex in the contralateral side. 7 , 8 Most observers will agree that the increased index of suspicion for true intersex should be entertained in the presence of 1) undescended testicle (particularly with hypospadias), 2) cyclic hematuria and 3) breast hypertrophy concomitant with undescended testicle. 4 • 7 The latter 2 findings represent puberal changes and are therefore of no value in pre-puberal individuals. Sex chromatin has been evaluated in a few cases of true hermaphroditism. Eleven cases have shown male pattern and 24 cases demonstrated female chromatin. 4- 6 • 9 The presence of a normal penis is quite unusual in true hermaphroditism, Five such cases have been observed. 2 • 10 - 13 CASE REPORT
M. L., No. 1331105, an S;i-year-olcl Jewish boy, was seen by the pediatric urology service, Squier Urological Clinic, Columbia-Presbyterian Medical Center, because of complaints of right undescended testicle. The defect had been present since birth, whereas the left scrotal compartment had been normal. Administration of 10,000 units of chorionic gonadotrophin for 1 week during August 1957 failed to produce testicular descent. Another course of 10,000 units over a 6-week period was likewise unsuccessful.
Accepted for publication September 4, 1962. 1 Young, H. H.: Congenital Abnormalities, 7 Grumbach, M. M. and Barr, M. L. Cytologic Hermaphroditism and Related Adrenal Disease. tests of chromosomal sex in relation to sexual Baltimore: The Williams and Wilkins Co., 1937. anomalies in man. Recent Progr. Hormone Res., 2 Mclver, R. B., Seabaugh, D.R. and Mangels, M., Jr.: True hermaphroditism. A report of two 14: 255-324; discussion, pp. 324-34, 1958. 8 Young, H. H.: Operative treatment of true cases. J. Ural., 52: 67, 1944. hermaphroditism. Arch. Surg., 41: 557, 1940. 3 Overzier, C.: Acta Endocrinologica, 20: 63, 9 Moore, K. L., Graham, M.A. and Barr, JVI. L.: 1955. Surg., Gynec & Obst., 96: 641, 1953. 4 Lewis, E. L.: A true hermaphrodite, clinical 10 DelVIoura, A. C. and Basto, L. P.: True herand psychological study. J. Urol., 81: 309, 1959. maphroditism. J. Urol., 56: 725, 1946. 5 Austerman, W. and Beach, P. D.: True her11 Atakam, A. M.: A case of hermaphrodisum maphroditism, with a report of two cases. J. Ural., masculinus internus. Ann Surg., 140: 216, 1954 . 85: 345, 1961. 12 Hommes, J. H.: Zentralblatt f. Chirurgie, 6 Vaughn, J. and Gonzales-Angulo, A.: True hermaphrodite with ovarian tumor. J. Urol., 86: 79: 593, 1954. 13 Bani, U.: Policlinico sez. prat., 63: 238, 1956. 776, 1961. 483
484
JUSTICE, KNAPPENBERGER AND VEENEMA
Fm. 1. Sketch of findings at operation. A, oviduct. B, ovary. C, uterus. D, atrophic scrotal compartment. E, normal scrotal compartment. F, normal meatus. The child was admitted to Babies Hospital June 7, 1959 for orchiopexy. Past history revealed that he was the product of a full-term pregnancy, low forceps delivery, and weighing 5 pounds 4 ounces. His development was normal. Immunizations: Diphtheria, poliomyelitis, small pox. Operations: tonsillectomy and adenoidectomy. Previous illness: measles age 6, chicken pox, 4 months prior to admission. System review: not remarkable. The patient appeared to be a well nourished white boy of development consistent with age and in no distress. Pulse 84, respiration 20, blood pressure 94/60, weight 29.8 kilograms. Skin: normal turgor; a healing abrasion of the right elbow. Cardiovascular: normal sinus rhythm was present with a grade 2 apical blowing systolic murmur loudest at the right base but heard over the entire precordium. There was no diastolic component and no demonstrable cardiomegaly. Extremities: the fingers were somewhat tapered but otherwise not remarkable. Neurological examination was not remarkable. Rectal: the prostate was not definitely felt. Genitalia: penis was circumcised and the mea tus was in normal position. The right scrotal compartment was atrophic and no testicle could be palpated either in the scrotum or in the inguinal canal. The left scrotal compartment contained an apparently normal testicle and epididymis.
Hemoglobin was 12.3 gm. and white blood cell count was 8,850 with 60 per cent neutrophils, 34 per cent lymphocytes, 3 per cent monocytes, 3 per cent eosinophils. Urinalysis was negative and non-protein nitrogen 31 mg. per cent. Chest x-ray was negative; electrocardiogram was within normal limits. The buccal smear showed a male chromatin pattern. Excretory urogram, gravity cystogram and voiding urethrogram were normal. On June 11 the right groin was explored with the intention of performing an orchiopexy. At the level of the internal ring, a hernial sac was found and opened. Instead of a testicle, there was a tubular structure with a fimbriated end resembling a fallopian tube. The incision was extended to gain access to the peritoneal cavity. A definite mesosalpinx contained a pink mass 1 by 0.5 cm. resembling a small ovary. In addition, the suspected oviduct was found to emanate from a triangular mass of dense consistency, strongly resembling a diminutive uterus. A tiny bosselation was noted on the opposite side of this mass, in a position where a contralateral oviduct would be expected to attach (fig. 1). The suspected uterus tapered distally toward the culde-sac but disappeared into a filmy fibrous strand with no connection to the prostatic urethra. A thorough search of the pelvis revealed no other abnormal structures.
TRUE HERMAPHRODITE
485
Fm. 2. A, ovary shows small follicle. B, testicle
It became evident that the identity of the left gonad should be established; therefore the left scrotal compartment was opened. A grossly normal testis, epididymis and vas deferens were found. A biopsy of the testis was taken. The mtillerian elements in the right groin were totally removed, and the wound was closed in
layers. The convalescence was uneventful. The patient was discharged 10 days following the operation. Microscopic examination of the removed tissues confirmed the suspected identity of both gonadal elements. A section of ovary with a small follicle and a section of testicular biopsy are shown in
486
JUSTICE, KNAPPENBERGER AND VEENEMA
Fm. 3. Full front view of patient figure 2. The oviduct and uterus were likewise positively identified. Although the complete lateralization and normal phallus are rare in true intersex, they leave no problem of decision in therapy (figs. 3 and 4). The patient never showed any behavioral or emotional patterns other than a normal child of his age. Including this case, there have been 12 cases of true intersex reported with male chromatin and 24 with female, making a ratio of 1 to 2. SUMMARY A case of true hermaphroditism which brings the total to 93 cases has been reported. Complete lateralization was found and the case reported is the sixth known one to have a normal penis. Sex chromatin was reported as male.
Fm. 4. Perineal view shows normal position of meatus. The authors gratefully acknowledge the valuable advice and technical assistance of Dr. A. C. Uson in preparation of this report. REFERENCES DAVIS, D. M. AND ScHEFFEY, L. C.: A case of true hermaphroditism. J. Urol., 56: 715, 1946. ENGLE, E.T., YEAW, R. C. AND LA'.rTIMER, J. K.: True hermaphroditism; supplementary report of a case. J. Urol., 56: 731, 1946. HAMPSON, J. G.: Hermaphroditic genital appearance, rearing and eroticism. Bull. Johns Hopkins Hosp., 96: 265, 1955. MARSHALL, V. F. and associates: True hermaphroditism; a conference on the management of one patient. J. Urol., 72: 77, 1954. STIRLING, W. C.: A report of a case of true hermaphroditism. J. Urol., 56: 720, 1946. WEED, J. c., SEGALOFF, A., WIENER, w. B. AND DoUGLAS, J. W.: True hermaphroditism. J. Clin. Endocrinol., 7: 741, 1947.