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True Hermaphroditism
Vol. 105, April
THE JOURNAL OF UROLOGY
Printed in U.S.A.
Copyright© 1971 by The Williams & Wilkins Co.
TRUE HERMAPHRODITISM CARL A. OLSSON,* PAUL A. TESSIER, MORTON L. BROWN
AND
GEORGE AUSTEN, JR.
From the Department of Urology, Boston City Hospital, Boston, Massachusetts
Delays in diagnosis and treatment of true hermaphroditism still prevail. The case herein described represents such a delay. CASE REPORT
A 13-year-old Negro was seen in April 1968 for evaluation of a left scrotal mass and gynecomastia. The patient, the product of an uncomplicated full-term delivery, was reported to have had perinea! hypospadias and a bifid scrotum containing 2 gonads at birth. Male sex was assigned at that time without further studies. The patient, between the ages of 2 and 7 years, was hospitalized on several occasions and underwent several operative procedures for repair of the hypospadias. Intersex was suspected during those hospital admissions. A test of 24-hour urinary ketosteroids was normal but repetitive buccal smears were chromatin positive (female). Despite this latter finding no further evaluation was performed at that time. A diagnosis of left cryptorchism was made when the patient was 9 years old with the left "testis" now palpable in the inguinal canal. Orchiopexy was performed without biopsy of the gonad. The patient grew normally with the psychological orientation of a male subject. He was lost to followup until he was 13 years old when gynecomastia and a scrotal mass prompted his referral to the urology service. Pertinent physical findings were limited to the chest and genital areas. The breasts were enlarged and a serous discharge could be expressed from the nipples. The penis was foreshortened and deformed with coronal hypospadias (fig. 1). The scrotum was irregular, partially encircling the penis and had poorly developed compartments. The right gonad measured only 2 by 1 cm. The left gonad measured 3.5 cm. in diameter with a 1 em. cystic mass at its lower pole. Tubular structures could not be palpated on either side presumably due to postoperative deformities. Accepted for publication April 27, 1970. * Current address: Boston Veterans Administration Hospital, Boston, Massachusetts 02130. Read at annual meeting of New England Section, American Urological Association, Dorado, Puerto Rico, October 12-17, 1969.
Laboratory studies, including urinalysis, blood urea nitrogen, serum electrolytes and fasting blood sugar, were normal. Complete blood count showed mild anemia consistent with previously diagnosed sickle-cell trait. A buccal smear was again chromatin positive and a leukocyte karyotype revealed a 46 XX pattern (fig. 2). Urinary 17-ketosteroids were 1.0 mg. and 17-hydroxycorticosteroids were 2.6 mg. excreted in 24 hours. Urinary gonadotropins showed no response at the lowest level. Plain abdominal films and excretory urogram were normal except for the finding of spina bifida occulta. Cystourethroscopy showed a normal appearing prostatic urethra. No endoscopic or radiologic evidence of a vagina was found. Left scrotal and abdominal exploration was done and no female internal organs were found. The left gonad, including the cystic structure at its lower pole, was biopsied. Subsequently, the right gonad was biopsied with similar findings of cystic cavities within its substance. Ovarian and testicular stromata were found in each gonad (figs. 3 and 4). Both ovotestes were removed and child-size silastic testicular prostheses were inserted. The patient was treated with 50 mg. intramuscular testosterone enanthate every 2 weeks. It was decided to observe the patient for resolution of the gynecomastia. One year later, when the patient was 14 years old, it became apparent that the mammary hypertrophy had not receded and was a source of embarrassment to the patient. Furthermore, it was noted that the child-size testicular prostheses were now too small for the patient's frame. Therefore, bilateral simple mastectomy was performed as well as replacement of testis prostheses with adult-sized implants. DISCUSSION
Genetics. Since the introduction by Barr in 1959 of sex chromatin testing in the evaluation of intersex problems,1 many interesting theories have been proposed to explain true hermaphroditism. An XX genotype produces a chromatin 1 Barr, M. L.: Sex chromatin and phenotype in man. Science, 130: 679, 1959.
586
587
TRUE HERMAPHRODITISM
positive (female) individual and an XY genotype produces a chromatin negative (male) individual. Because Y chromosomal substance is required to induce formation of a testis, it is difficult to explain how testes or ovotestes develop in true hermaphrodites, 80 per cent of whom are chromatin positive. 2 One commonly accepted explanation for this contradiction is the possibility of mosaicism which could produce chromatin positive and chromatin negative cells in the same individual. Indeed, mosaicism has been found in a number of cases of true hermaphroditism, 2- 5 representing in most the presence of a Y chromosome somewhere in the patient's tissues. Chromatid non-disjunction or anaphase lag could explain the occurrence of many of the mosaic forms seen in true hermaphrodites; however, the most common mosaic form of this disease, XX/XY, has not been observed as a result of these mechanisms in the human. Josso 3 and Gartler 5 have described XX/XY mosaicism in hermaphrodites occurring as the result of double fertilization of either a binucleate ovum or of an ovum and its polar body. Thus, 2 different spermatozoa (one X and one Y) contribute to the formation of an XX/XY zygote. However, the majority of true hermaphrodites (even when a number of tissues are studied) show no evidence of mosaicism and are 46 XX. An explanation for the development of testicular tissue in hermaphrodites with an XX karyotype has been recently proposed by Ferguson-Smith who described the theory of X-Y chromosomal interchange. 4 His thesis suggests that the testisinducing loci on one arm of a Y chromosome could become transferred to an arm of an X chromosome during the first meiotic division of a primary spermatocyte (fig. 5). The resulting spermatocyte would be designated XY and would produce a zygote designated XXY. Such patients would 2 Federman, D. D.: Abnormal Sexual Development. A Genetic and Endocrine Approach to Differential Diagnosis. Philadelphia: W. B. Saunders Co., pp. 58-66, 1967. 3 Jasso, N., Grouchy, J., de, Auvert, J., Nezelof, C., Jayle, M. F., Moullec, J., Frezal, J., Casaubon, A., de and Lamy, M.: True hermaphroditism with XX/XY mosaicism, probably due to double fertilization of the ovum. J. Clin. Endocr., 25: 114, 1965. 4 Ferguson-Smith, M. A.: X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet, 2: 475, 1966. 5 Gartler, S. M., Waxman, S. H. and Giblett, E.: An XX/XY human hermaphrodite resultirrg from double fertilization. Proc. Nat. Acad. Sci., 48: 332,
1962.
Fr.a. l. Photograph of genitalia of patient shows deformity post-hypospadias repair. Note scrotal folds partially encircling phallus and high position of right gonad.
A
C'
C
I'
X
IB lt ll_ ll ,11, it.
C
D
F
G
II I I y
y
Frn. 2. Karyotype of patient, A. D., shows 46 XX genotype. have chromatin positive buccal smears. Since the XY chromosome is indistinguishable from the X chromosome by karyotype, these patients would also have 46 XX genotypes. Despite this apparently female genotype, the male determinant
588
OLSSON AND ASSOCIATES
Frn. 3. A, testicular portion of left ovotestis. B, ovarian portion of left ovotestis demonstrates primary follicle.
X-Y
INTERCHANGE
8
i ~ ~
/
Frn. 4. Right ovotestis shows boundary between follicular activity below and testicular tubules above. portion of the XY chromosome could induce testis or ovotestis development in the hermaphrodite. Early diagnosis. The diagnosis of true hermaphroditism requires strict proof of the presence of both ovarian and testicular tissue in the same patient. Nevertheless, there are many clues to the diagnosis of the condition that are present at
"'
f, 8 0000 I
\
I
\
Frn. 5. Diagrammatic representation of X-Y interchange. Y chromosome is black and X chromosome is white. Note in first meiotic division, Y substance (represented by black dot with stem) has become attached to X chromosome, leading to eventual production of XY spermatid.
589
TRUE HERMAPHRODITISM
birth and can be noted on routine examination of the neonate (table 1). Hypospadias has been noted in the majority of cases of true hermaphroditism, a normal penis having been reported in only 14 of nearly 150 cases. 5- 9 The hypospadiac deformity is not infrequently associated with bifid scrotal folds. "Cryptogonadism" is similarly common, with only 6 cases of bilaterally descended gonads reported. 9 Inguinal hernia occurs in 45 per cent of true hermaphrodites. 2 A groin mass in a supposed female subject should likewise cause suspicion of the anomaly. Unfortunately, as represented by our case, many hermaphrodites are not diagnosed until the appearance of contradictory sexual development at puberty alerts the physician to the condition. Supposed male individuals will, at that time, present with gynecomastia secondary to estrogen production by ovarian tissue and supposed fe-. male subjects will display deepening of the voice, clitorimegaly, acne and hirsutism due to androgenic stimulation. Periodic hematuria, seen in 50 per cent of "males" is a clue to the existence of functioning uterine tissue emptying into the urinary tract. 2 An additional lead to the diagnosis of true hermaphroditism, not previously emphasized, is the development of a hydrocele or other scrotal mass in the supposed male subject. The cystic scrotal mass in our case represented a follicular cyst of the left ovotestis. The need for early diagnosis of the disease has been stressed previously_I0- 12 JVIoney reported that after the age of 30 months it is too late to 6 Koontz, W.W., Jr., Young, R. B., St. George Tucker, H. and Prout, G. R., Jr.: True hermaphroditism: a report of 3 cases. J. Urol., 101: 102, 1969. 7 Bregman, R. U., Bregman, E. T., Cushner, G. B. and Woods, F. M.: Chromosome analysis, nuclear sex, clinical and endocrine studies of a true hermaphrodite. J. Urol., 89: 475, 1963. 8 Justice, M. W., Knappenberger, S. T. and Veenema, R. J.: True hermaphrodite: a case report. J. Urol., 89: 483, 1963. 9 McDaniel, E. C., Nadel, M. and Woolverton, W. C.: True hermaphrodite with bilaterally descended ovotestes. J. Urol., 100: 77, 1968. 10 Money, J., Hampson, J. G. and Hampson, J. L.: Hermaphroditism: recommendations concerning assignment of sex, change of sex, and psychologic management. Bull. Johns Hopkins Hosp., 97: 284, 1955. 11 Salvatierra, 0., Jr., Skaist, L.B. and Morrow, J. W.: True hermaphroditism discovered 10 years after hypospadias repair: report of 2 cases. J. Urol., 98: 111, 1967. 12 Bunge, R. G., Albert, A., Burns, E. and Hampson, J. G.: Panel discussion: determination of sex and what to do about it. J. Urol., 81:
13, 1959.
TABLE
1. True hermaphroditism-clues to
early diagnois Prepubertal Hypospadias with cryptogonadism Bifid scrotum Inguinal hernia Groin mass ("female")
Postpubertal "Male" Gynecomastia
Cyclic hematuria Scrotal mass Female hair pattern ''Female'' Acne Deep voice Clitorimegaly Male hair pattern
TABLE
2. Treatment of true hermaphroditism* "Male" Hypospadias repair Removal of female internal organs Simple mastectomy Insertion testicular prostheses Supplementary androgens ''Female'' Amputation of phallus Revision of vagina when needed Supplementary estrogens
* All cases--removal of contradictory gonadal tissue.
make a change of sex without creating some degree of psychological disturbance in the child. 10 We would like to emphasize the suggestion by Salvatierra that all patients with hypospadias and one or more undescended gonads should have abdominal exploration and biopsy of all gonadal tissue early in life.11 We have suggested the use of a new expression, cryptogonadism. We feel that this is a useful term for describing the absence of a gonad from the scrotum (especially in a hypospadiac individual). This term reminds the physician that the true identity of the gonad (testis, ovary or ovotestis) cannot be known until biopsy evidence is available. Treatment. The variety of surgical procedures and hormonal manipulations required in the treatment of a true hermaphrodite is extensive (table 2). After sex assignment has been decided, removal of all contradictory gonadal tissue is necessary to eradicate hormonal antagonism. Lewis reported excising only the ovarian portion of an ovotestis and observing the child for signs of feminization prior to total
590
OLSSON AND ASSOCIATES
gonadal excision. 13 We feel that ovotestes should be completely removed because I) all contradictory tissue cannot be removed with certainty by partial excision, 2) replacement hormonal therapy is now simple to achieve after gonadectomy, 3) children should be spared the development of sexual incongruity at adolescence and 4) the preservation of fertility should not be a concern since the power of reproduction has not been proved in patients with ovotestes. 6 Other procedures involved in the treatment of the true hermaphrodite are those which are used in the treatment of any intersexual state. Thus, "males" may require hypospadias repair, insertion of testicular prostheses, abdominal exploration with hysterectomy and vaginal excision and mastectomy. "Females" may require phalLewis, E. L.: A true hermaphrodite. Clinical and psychological study. J. Urol., 81: 309, 1959. 13
lus amputation, construction of a vagina and vulvoplasty. Patients with hernias should undergo hernia repair at the time of the abdominal and gonadal exploration. SUMMARY
An additional example of true hermaphroditism is presented. Recent theories explaining the paradoxical genetic patterns in such patients are reviewed. The clues to early diagnosis and the importance of early treatment of the condition are discussed. The use of the expression "cryptogonadism" is suggested in order to alert the physician of the possible ambiguity of a hidden gonad. Dr. Daniel D. Federman performed hormone assays and was a consultant in the management of this patient.
THE JOURNAL OF UROLOGY
Printed in U.S.A.
Copyright© 1971 by The Williams & Wilkins Co.
TRUE HERMAPHRODITISM CARL A. OLSSON,* PAUL A. TESSIER, MORTON L. BROWN
AND
GEORGE AUSTEN, JR.
From the Department of Urology, Boston City Hospital, Boston, Massachusetts
Delays in diagnosis and treatment of true hermaphroditism still prevail. The case herein described represents such a delay. CASE REPORT
A 13-year-old Negro was seen in April 1968 for evaluation of a left scrotal mass and gynecomastia. The patient, the product of an uncomplicated full-term delivery, was reported to have had perinea! hypospadias and a bifid scrotum containing 2 gonads at birth. Male sex was assigned at that time without further studies. The patient, between the ages of 2 and 7 years, was hospitalized on several occasions and underwent several operative procedures for repair of the hypospadias. Intersex was suspected during those hospital admissions. A test of 24-hour urinary ketosteroids was normal but repetitive buccal smears were chromatin positive (female). Despite this latter finding no further evaluation was performed at that time. A diagnosis of left cryptorchism was made when the patient was 9 years old with the left "testis" now palpable in the inguinal canal. Orchiopexy was performed without biopsy of the gonad. The patient grew normally with the psychological orientation of a male subject. He was lost to followup until he was 13 years old when gynecomastia and a scrotal mass prompted his referral to the urology service. Pertinent physical findings were limited to the chest and genital areas. The breasts were enlarged and a serous discharge could be expressed from the nipples. The penis was foreshortened and deformed with coronal hypospadias (fig. 1). The scrotum was irregular, partially encircling the penis and had poorly developed compartments. The right gonad measured only 2 by 1 cm. The left gonad measured 3.5 cm. in diameter with a 1 em. cystic mass at its lower pole. Tubular structures could not be palpated on either side presumably due to postoperative deformities. Accepted for publication April 27, 1970. * Current address: Boston Veterans Administration Hospital, Boston, Massachusetts 02130. Read at annual meeting of New England Section, American Urological Association, Dorado, Puerto Rico, October 12-17, 1969.
Laboratory studies, including urinalysis, blood urea nitrogen, serum electrolytes and fasting blood sugar, were normal. Complete blood count showed mild anemia consistent with previously diagnosed sickle-cell trait. A buccal smear was again chromatin positive and a leukocyte karyotype revealed a 46 XX pattern (fig. 2). Urinary 17-ketosteroids were 1.0 mg. and 17-hydroxycorticosteroids were 2.6 mg. excreted in 24 hours. Urinary gonadotropins showed no response at the lowest level. Plain abdominal films and excretory urogram were normal except for the finding of spina bifida occulta. Cystourethroscopy showed a normal appearing prostatic urethra. No endoscopic or radiologic evidence of a vagina was found. Left scrotal and abdominal exploration was done and no female internal organs were found. The left gonad, including the cystic structure at its lower pole, was biopsied. Subsequently, the right gonad was biopsied with similar findings of cystic cavities within its substance. Ovarian and testicular stromata were found in each gonad (figs. 3 and 4). Both ovotestes were removed and child-size silastic testicular prostheses were inserted. The patient was treated with 50 mg. intramuscular testosterone enanthate every 2 weeks. It was decided to observe the patient for resolution of the gynecomastia. One year later, when the patient was 14 years old, it became apparent that the mammary hypertrophy had not receded and was a source of embarrassment to the patient. Furthermore, it was noted that the child-size testicular prostheses were now too small for the patient's frame. Therefore, bilateral simple mastectomy was performed as well as replacement of testis prostheses with adult-sized implants. DISCUSSION
Genetics. Since the introduction by Barr in 1959 of sex chromatin testing in the evaluation of intersex problems,1 many interesting theories have been proposed to explain true hermaphroditism. An XX genotype produces a chromatin 1 Barr, M. L.: Sex chromatin and phenotype in man. Science, 130: 679, 1959.
586
587
TRUE HERMAPHRODITISM
positive (female) individual and an XY genotype produces a chromatin negative (male) individual. Because Y chromosomal substance is required to induce formation of a testis, it is difficult to explain how testes or ovotestes develop in true hermaphrodites, 80 per cent of whom are chromatin positive. 2 One commonly accepted explanation for this contradiction is the possibility of mosaicism which could produce chromatin positive and chromatin negative cells in the same individual. Indeed, mosaicism has been found in a number of cases of true hermaphroditism, 2- 5 representing in most the presence of a Y chromosome somewhere in the patient's tissues. Chromatid non-disjunction or anaphase lag could explain the occurrence of many of the mosaic forms seen in true hermaphrodites; however, the most common mosaic form of this disease, XX/XY, has not been observed as a result of these mechanisms in the human. Josso 3 and Gartler 5 have described XX/XY mosaicism in hermaphrodites occurring as the result of double fertilization of either a binucleate ovum or of an ovum and its polar body. Thus, 2 different spermatozoa (one X and one Y) contribute to the formation of an XX/XY zygote. However, the majority of true hermaphrodites (even when a number of tissues are studied) show no evidence of mosaicism and are 46 XX. An explanation for the development of testicular tissue in hermaphrodites with an XX karyotype has been recently proposed by Ferguson-Smith who described the theory of X-Y chromosomal interchange. 4 His thesis suggests that the testisinducing loci on one arm of a Y chromosome could become transferred to an arm of an X chromosome during the first meiotic division of a primary spermatocyte (fig. 5). The resulting spermatocyte would be designated XY and would produce a zygote designated XXY. Such patients would 2 Federman, D. D.: Abnormal Sexual Development. A Genetic and Endocrine Approach to Differential Diagnosis. Philadelphia: W. B. Saunders Co., pp. 58-66, 1967. 3 Jasso, N., Grouchy, J., de, Auvert, J., Nezelof, C., Jayle, M. F., Moullec, J., Frezal, J., Casaubon, A., de and Lamy, M.: True hermaphroditism with XX/XY mosaicism, probably due to double fertilization of the ovum. J. Clin. Endocr., 25: 114, 1965. 4 Ferguson-Smith, M. A.: X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet, 2: 475, 1966. 5 Gartler, S. M., Waxman, S. H. and Giblett, E.: An XX/XY human hermaphrodite resultirrg from double fertilization. Proc. Nat. Acad. Sci., 48: 332,
1962.
Fr.a. l. Photograph of genitalia of patient shows deformity post-hypospadias repair. Note scrotal folds partially encircling phallus and high position of right gonad.
A
C'
C
I'
X
IB lt ll_ ll ,11, it.
C
D
F
G
II I I y
y
Frn. 2. Karyotype of patient, A. D., shows 46 XX genotype. have chromatin positive buccal smears. Since the XY chromosome is indistinguishable from the X chromosome by karyotype, these patients would also have 46 XX genotypes. Despite this apparently female genotype, the male determinant
588
OLSSON AND ASSOCIATES
Frn. 3. A, testicular portion of left ovotestis. B, ovarian portion of left ovotestis demonstrates primary follicle.
X-Y
INTERCHANGE
8
i ~ ~
/
Frn. 4. Right ovotestis shows boundary between follicular activity below and testicular tubules above. portion of the XY chromosome could induce testis or ovotestis development in the hermaphrodite. Early diagnosis. The diagnosis of true hermaphroditism requires strict proof of the presence of both ovarian and testicular tissue in the same patient. Nevertheless, there are many clues to the diagnosis of the condition that are present at
"'
f, 8 0000 I
\
I
\
Frn. 5. Diagrammatic representation of X-Y interchange. Y chromosome is black and X chromosome is white. Note in first meiotic division, Y substance (represented by black dot with stem) has become attached to X chromosome, leading to eventual production of XY spermatid.
589
TRUE HERMAPHRODITISM
birth and can be noted on routine examination of the neonate (table 1). Hypospadias has been noted in the majority of cases of true hermaphroditism, a normal penis having been reported in only 14 of nearly 150 cases. 5- 9 The hypospadiac deformity is not infrequently associated with bifid scrotal folds. "Cryptogonadism" is similarly common, with only 6 cases of bilaterally descended gonads reported. 9 Inguinal hernia occurs in 45 per cent of true hermaphrodites. 2 A groin mass in a supposed female subject should likewise cause suspicion of the anomaly. Unfortunately, as represented by our case, many hermaphrodites are not diagnosed until the appearance of contradictory sexual development at puberty alerts the physician to the condition. Supposed male individuals will, at that time, present with gynecomastia secondary to estrogen production by ovarian tissue and supposed fe-. male subjects will display deepening of the voice, clitorimegaly, acne and hirsutism due to androgenic stimulation. Periodic hematuria, seen in 50 per cent of "males" is a clue to the existence of functioning uterine tissue emptying into the urinary tract. 2 An additional lead to the diagnosis of true hermaphroditism, not previously emphasized, is the development of a hydrocele or other scrotal mass in the supposed male subject. The cystic scrotal mass in our case represented a follicular cyst of the left ovotestis. The need for early diagnosis of the disease has been stressed previously_I0- 12 JVIoney reported that after the age of 30 months it is too late to 6 Koontz, W.W., Jr., Young, R. B., St. George Tucker, H. and Prout, G. R., Jr.: True hermaphroditism: a report of 3 cases. J. Urol., 101: 102, 1969. 7 Bregman, R. U., Bregman, E. T., Cushner, G. B. and Woods, F. M.: Chromosome analysis, nuclear sex, clinical and endocrine studies of a true hermaphrodite. J. Urol., 89: 475, 1963. 8 Justice, M. W., Knappenberger, S. T. and Veenema, R. J.: True hermaphrodite: a case report. J. Urol., 89: 483, 1963. 9 McDaniel, E. C., Nadel, M. and Woolverton, W. C.: True hermaphrodite with bilaterally descended ovotestes. J. Urol., 100: 77, 1968. 10 Money, J., Hampson, J. G. and Hampson, J. L.: Hermaphroditism: recommendations concerning assignment of sex, change of sex, and psychologic management. Bull. Johns Hopkins Hosp., 97: 284, 1955. 11 Salvatierra, 0., Jr., Skaist, L.B. and Morrow, J. W.: True hermaphroditism discovered 10 years after hypospadias repair: report of 2 cases. J. Urol., 98: 111, 1967. 12 Bunge, R. G., Albert, A., Burns, E. and Hampson, J. G.: Panel discussion: determination of sex and what to do about it. J. Urol., 81:
13, 1959.
TABLE
1. True hermaphroditism-clues to
early diagnois Prepubertal Hypospadias with cryptogonadism Bifid scrotum Inguinal hernia Groin mass ("female")
Postpubertal "Male" Gynecomastia
Cyclic hematuria Scrotal mass Female hair pattern ''Female'' Acne Deep voice Clitorimegaly Male hair pattern
TABLE
2. Treatment of true hermaphroditism* "Male" Hypospadias repair Removal of female internal organs Simple mastectomy Insertion testicular prostheses Supplementary androgens ''Female'' Amputation of phallus Revision of vagina when needed Supplementary estrogens
* All cases--removal of contradictory gonadal tissue.
make a change of sex without creating some degree of psychological disturbance in the child. 10 We would like to emphasize the suggestion by Salvatierra that all patients with hypospadias and one or more undescended gonads should have abdominal exploration and biopsy of all gonadal tissue early in life.11 We have suggested the use of a new expression, cryptogonadism. We feel that this is a useful term for describing the absence of a gonad from the scrotum (especially in a hypospadiac individual). This term reminds the physician that the true identity of the gonad (testis, ovary or ovotestis) cannot be known until biopsy evidence is available. Treatment. The variety of surgical procedures and hormonal manipulations required in the treatment of a true hermaphrodite is extensive (table 2). After sex assignment has been decided, removal of all contradictory gonadal tissue is necessary to eradicate hormonal antagonism. Lewis reported excising only the ovarian portion of an ovotestis and observing the child for signs of feminization prior to total
590
OLSSON AND ASSOCIATES
gonadal excision. 13 We feel that ovotestes should be completely removed because I) all contradictory tissue cannot be removed with certainty by partial excision, 2) replacement hormonal therapy is now simple to achieve after gonadectomy, 3) children should be spared the development of sexual incongruity at adolescence and 4) the preservation of fertility should not be a concern since the power of reproduction has not been proved in patients with ovotestes. 6 Other procedures involved in the treatment of the true hermaphrodite are those which are used in the treatment of any intersexual state. Thus, "males" may require hypospadias repair, insertion of testicular prostheses, abdominal exploration with hysterectomy and vaginal excision and mastectomy. "Females" may require phalLewis, E. L.: A true hermaphrodite. Clinical and psychological study. J. Urol., 81: 309, 1959. 13
lus amputation, construction of a vagina and vulvoplasty. Patients with hernias should undergo hernia repair at the time of the abdominal and gonadal exploration. SUMMARY
An additional example of true hermaphroditism is presented. Recent theories explaining the paradoxical genetic patterns in such patients are reviewed. The clues to early diagnosis and the importance of early treatment of the condition are discussed. The use of the expression "cryptogonadism" is suggested in order to alert the physician of the possible ambiguity of a hidden gonad. Dr. Daniel D. Federman performed hormone assays and was a consultant in the management of this patient.