- Email: [email protected]
Roentgenological Visualization of Genital Tract in Pseudohermaphrodism
THE JoCTRNAL OF U;aoLOGY
Vol. 64, No. 6, December 1950 Printed in U.S.A.
ROENTGENOLOGICAL VISUALIZATION OF GENITAL TRACT IN PSEUDOHERMAPHRODISM ROBERT J. McCAFFERY
From the Urological Clinic, St. Vincent's Hospital, Erie, Pa.
Hermaphrodism or gynandromorphism is that state in which the gonads of both sexes are present in the same individual. This condition is classified as: 1) lateral, ovary on one side, testis on the other; 2) unilateral, an ovotestis on one side only; 3) bilateral, an ovotestis on both sides. Pseudohermaphrodism is that state in which the gonad is either male or female with modification of the internal or external genitalia to resemble that of the opposite sex. The term intersexuality is probably better used in the designation of the myriad manifestations of sexual anomalies (Hoffman). There are genetic and hormonal influences on sex differentiation, so we have the further designations of genetical and hormonal intersexuality to distinguish those instances where alteration of sexuality has occurred during the genetical or the hormonal phase of sex differentiation. The genetical sex of a fertilized ovum is dependent upon whether the X chromosome ovum is impregnated by a sperm containing an X chromosome to produce a female or a sperm containing a Y chromosome to produce a male zygote. Hmvever, in the zygote there is the bisexual potentiality evidenced in the resultant embryo by the presence of primordial ovary and testis, wolffian and mullerian duct systems, and the undifferentiated common primordia of the external genitalia. The direction taken by the sex differentiation of the embryo is genetically determined but is altered by hormonal stimuli, probably originating in the gonadal primordium. The cortex produces female and the medulla male differentiating hormone, each of ·which antagonizes or inhibits the other while stimulating the development of the embryonic extragonadal sex characters. Normally, the genetically dominant gonad gains the ascendency and is brought to maturity where it produces the definitive hormones influencing the development of the sex characters into male or female form. True hermaphrodism is probably due to alterations in the bipotential gonadal primordium which prevent the dominant portion of the gonad from exerting complete inhibition of the recessive portion. The recessive portion may survive to develop in various grades of equality and thus produce the bisexual individual. True hermaphrodism is the result of simultaneous development of male and female gonads and can be due only to changes occurring in the early stages of cell division in the fertilized ovum and not to hormonal influence. The types of intersexuality characterized by evidences of pseudohermaphrodism can occur as a result of aberrations of either genetical or hormonal influences. In the former instance the potency of the recessive gonad is above normal and assumes a dominant position later in embryonic life, leading to reversal of sexual Read at annual meeting, X ortheastern Section, American Urological Association, Seigniory Club, Province of Quebec, Canada, October 13, 1948.
791
792
ROBERT J. MCCAFFERY
development. Thus an embryo which has started to develop as a female may begin to develop male dominance and only those sex organs whose imaginal discs were developed before this reversal will be female, while those organs developed thereafter will be male. Hormonal influences in production of intersexuality are: 1) Maternal sex hormone influences; "Witschi postulates the existence in some females of a feminizing gene which causes them to produce, while pregnant, hormones differing in potency from those of the normal individual. Male embryos are affected by these substances and their later developed sex characteristics are differentiated in the female direction. 2) Hormone producing tumors and hyperplasia of the adrenal cortex; Werner gives a classification of adrenal cortical hyperfunction which divides the condition into three periods according to apparent age of onset: Type 1, cortical hyperfunction occurring in embryonal and fetal life, producing pseudohermaphrodism. Type 2, prepubertal and adolescent cortical hyperfunction producing precocious puberty in the child with accentuation of male characteristics in the male and a tendency towards masculinization of the female featured by enlargement of the clitoris, hypertrichosis, masculine voice and configuration and absence of onset of menstruation. Type 3, adult cortical hyperfunction featured by male hair distribution, voice changes, amenorrhea and associated with obesity. This type is due to excess production of androgens by the hyperfunctioning adrenal tissue. That the same substance is culpable in the first two types of adrenogenitalism seems equally evident. In the first it causes alteration ;of predetermined or genetical sex and in the second produces virilism in the female while accentuating the male characteristics of the boy or young man. The entire clinical syndrome known as adrenogenitalism has been also ascribed to lesions elsewhere in the endocrine system, such as basophilic adenoma, hyaline degeneration and sarcoma of the anterior pituitary; arrhenoblastoma of the ovary; thymic tumors and pineal tumors. The diagnosis of sexual or genital aberration occurring postnatally as the result of hormone producing tumors is founded upon history, physical and x-ray findings and hormonal assay. In congenital intersexuality absolute determination of sex is often impossible due to the confusing characteristics of bisexuality. As an adjunct to evidence obtained by history and physical examination we have recently had opportunity to employ roentgen visualization of the genital tract in several varieties of intersexuality. The technique consists of an adaptation of the well recognized procedure of uterotubography and is still in the process of development and refinement. However, it has given valuable diagnostic aid where genital examination in young children has proven difficult and unsatisfactory. The procedure differs from uterotubography in that stress is laid upon visualization of the vagina as to its size and development as well as upon the appearance of the uterus and tubes. The vagina may be absent and its apparent aperture may be a hypospadic male urethra or a remnant of the vaginal portion of the urogenital sinus. Again, the vagina may be invisible at the orifice but join the urethra a short distance proximal to the external meatus. It is only when the vagina and uterus are in normal relationship that visualization comparable to uterotubography can be obtained. It was in an effort to visualize the vagina of a female pseudohermaphrodite that we first obtained a roentgenogram of the uterus and tubes.
ROENTGENOLOGICAL VISUALIZATION OF GENITAL TRACT
793
Uterotubography or hysterosalpingography, according to Robins and Shapira, was first described by Cary in 1914. He made use of collargol and in the period 1914 to 1925 many substances were tried and discarded because they were either insufficiently opaque or caused troublesome reactions. In 1924 St. Portret in France and Heuser in Argentina introduced lipiodol as the medium in uterotubography. It has since been universally used. It is nontoxic, sterile, nonirritating and well tolerated by the peritoneum and other tissues. Lipiodol was used in the cases here reported with the exception of the first where 6 per cent sodium iodide was the contrast medium. Details of technique will be ascribed in the comment upon the individual case. Dangers of uterotubography as given by Robins and Shipira are 1) infection; 2) intravasation; 3) tubal rupture; and 4) abortion. They state that in over 4,800 unselected cases only 3 patients developed evidence of peritonitis, and in each of these operation revealed the presence of pre-existing hydrosalpinx in which infection was rekindled by the injection of the medium. Intravasation of the uterine or ovarian viens was relatively common (5.8 per cent), but this accident usually gave no untoward symptoms and was noted only roentgenographically. Bloomfield states that intravasation may occur with injection just before or after menstruation, closely following dilatation or curettage and use of excessive pressure. Since we are dealing mostly with children, only the last of these predispositions could operate in our cases and no evidences of intravasation were noted. Tubal rupture is a product of inflammation and excessive force of injection. Normal tubes withstand 350-400 mm. of mercury and in the presence of obstruction 290 mm. is given as the maximum safe pressure (Robins and Shapira). However, in children where the mucosa is thin, lesser pressures could probably cause rupture of tubal or uterine lining. Since pregnancy would be unlikely in pseudohermaphrodism, the production of abortion needs no discussion. The contraindications to uterotubography are: 1) infection of vulva, vagina, cervix, urethra or bladder; 2) vaginal bleeding; 3) fever of any cause; 4) pulmonary or cardiac disease. CASE REPORTS
Case 1 (File No. 168015, St. Vincent's Hospital) is that of a 5 year old child (fig. 1, A). The mother was told at the time of birth that the baby had an enlarged clitoris, and the child had been brought up as a girl. The abnormality had undergone no evident change and the child had developed well and apparently normal in all other respects. The mother stated: "The clitoris becomes enlarged when the child urinates but the urine does not appear to come from the clitoris." The past history was negative except for whooping cough at 6 months and chickenpox at the age of 4 years. Physical examination showed no gross abnormalities with exception of the external genitalia where there is a hypertrophied clitoris having a definite glans and prepuce (fig. 1, B). The organ measured 2 cm. in length and 1 cm. in diameter. The urethra vvas not visible externally, but on separation of the labia the urethral orifice was seen to open into the roof of the vagina (fig. 1, C). The vagina was about 3 cm. in depth. Rectal examination was
794
ROBERT J. MCCAFFERY
unsatisfactory. There were no definitely palpable internal genitalia. In an effort to visualize the vagina, a solution of sodium iodide of approximately 6 per cent
L
Fm. 1. Case 1. A, photograph of patient. B, showing enlarged clitoris. C, close-up of external genitalia. D, vagina and bicornate uterus.
was gently inJected by means of a urethral syringe held firmly against the hymenal ring. Six cubic centimeters of solution entered the vagina and an x-ray film was taken while the syringe was still in place (fig. 1, D). The film showed a vagina 32 mm. long and 12 mm. wide. The uterus was seen as a Y-shaped struc-
ROENTGENOLOGICAL VISUALIZATION OF GENITAL TRACT
795
ture. The long arm was 21 mm. and represented the cervix. The right arm measured 13 mm. and the left 19 mm. Diagnosis of a bicornate uterus was made. At operation the above findings were confirmed. The gonads were elongated structures 3 cm. in length and 6 mm. in diameter and bilaterally symmetrical. The proximal end of each gonad vrns continuous with a thin fibrous band attached to the posterior abdominal wall at the lower pole of each kidney. A small section was taken from the left gonad for microscopic examination. No other gonadal tissue could be found in the abdomen, pelvis or inguinal regions. The pathologist reported the biopsied material to be ovarian tissue. Case 2 (File No. 168319) is that of a 5½ year old child, well nourished, well developed and mentally alert, brought to the clinic because of an enlarged clitoris. She weighed 4½ pounds at birth and had spent several months in an
Frn. 2. Case 2. A, normal vagina, uterus and tubes. B, 30 minute excretory urogram Note lipiodol in peritoneal cavity.
incubator; shortly after birth she was unable to void and "some type of operation upon the urethra" was done. She had no urinary symptoms since and gained voluntary control of urination at 1 year of age. The child had been reared as a girl. The family history was negative. Physical examination revealed no abnormalities except those of the genitalia. The labia majora and minora were normal in appearance and the vaginal and urethral orifices normally placed. The clitoris ,vas greatly hypertrophied, measuring 3.5 cm. in length and 1.5 cm. in diameter. The glans was well developed and there was a definite prepuce. A total of 10 cc of lipiodol was injected into the vagina by means of a urethral syringe and the progress of the injection observed under the fluoroscope. A film taken when the opaque medium had outlined the vagina, cervix and uterus (fig. 2, A) shows these structures together with the outline of the fallopian tubes. It is seen that the uterus lies somewhat to the right and is normal in appearance as are the fallopian
796
ROBERT J. MCCAFFERY
tubes. The elongated cervix is characteristic of the infantile or juvenile type of uterus. Figure 2, B shows the same patient thirty minutes after injection of intravenous diodrast. The uterus and tubes are again seen, together with the collection of lipiodol in the peritoneal cavity. The uterus has assumed a more median position. The cervix and vagina are no longer visible. Laparotomy confirmed the above findings and there were normal uterus, tubes, and ovaries
Frn. 3. Case 3. A, male intersex. (Compare with fig. 1, A.) B, bifid scrotum containing right testis; left testis in inguinal canal. C, lipiodol in rudimentary vagina. D, male intersex. Lipiodol fills urethra, vagina and bladder base. Note gynecoid pelvis.
present, with no evidence of male type gonad seen. A small, wedge shaped portion of the left ovary was taken for biopsy. The clitoris was amputated. The pathologist stated "the tissue presented for examination can be readily identified as ovary." Case 3 (File No. 168178) is a 4 year old child presenting the superficial appearance of a normally developed female (fig. 3, A) and who had been brought up as a girl. However, closer inspection of the genitalia revealed that the labia majora are saccular and with child in the erect posture, a testicle could be seen and
ROENTGENOLOGICAL VISUALIZATION OF GENITAL TRACT
797
palpated in each "labium" (fig. 3, B). The phallus was well developed, had a definite glans and prepuce. The urethral meatus was seen between the "labia" and readily admitted a 16 F catheter. There was a small vaginal orifice opening below the urethra. A soft rubber catheter was passed into the vaginal orifice (fig. 3, C) and lipiodol injected. The rudimentary vagina is seen as a tubular structure not more than 1.5 cm. in length. There is no visualization of a cervix or uterus and no evidence that these organs were present. This patient represents a male intersex and the abnormality is probably due to prenatal hormonal imbalance, the effect of which is exerted upon the last stage of genital development. This hormonal influence may be of maternal origin. This type of patient is obviously not benefited by removal of the so-called "enlarged clitoris."
Frn. 4
Case 4 (File No. 168547) demonstrates a 37 year old adult whose life had been passed as a female and whose temperament and reaction was that of a female. Examination revealed a small, movable, globular mass in each inguinal region, normal appearing labia majora and a hypertrophied, erectile clitoris. Retraction of the labia uncovered a common opening of the urethral meatus and of a vestigial vagina. Approximately 20 cc of lipiodol inJected into the apparent orifice of the vagina shows this structure to be a blind pouch (fig. 4). There is no evidence of the presence of a cervix or uterus. The vagina, in reality, opens on the floor of the urethra and the lipiodol readily enters the bladder. The elongation of the urethra, as seen on the film, gives evidence of the presence of an underdeveloped prostate gland but this could not be definitely confirmed by rectal palpation. Here is another instance of male intersexuality due to feminizing hormonal influence. The patient demonstrates the findings thought by Witschi to be those of the most common type of human intersex. These are: fully or partially sterile testes, male gonaducts, a blind vagina, female type external genitalia, fairly well developed breasts, no beard and a high pitched voice. The first phase of
798
ROBERT J. MCCAFFERY
sex differentiation was male, followed by a period during which the last developed secondary sex characters differentiated toward the female. In contradistinction case 3 is an example of male intersex in which the feminizing influence was exerted at a later period of development, hence the male external characters are more evident. The practice of removing the clitoris, while a simple procedure, should be confined to those cases in which there is evidence of well developed mullerian duct structures, namely, fallopian tubes, uterus, cervix and upper vagina such as are represented in cases 1 and 2. We believe that such evidence can be obtained by roentgenological visualization of these structures, as herein demonstrated, and that this relatively simple and innocuous procedure should be used before surgery is contemplated. The study should be employed in all instances where there is evidence of genital abnormality. It is perhaps best done in the preschool child where the psychological pattern is not yet fixed and where a change in apparent sex can be established without the great turmoil which always follows such change-over in the adult. SUMMARY
Adequate diagnosis of intersexuality in children is difficult and places a great burden upon the physician who attempts to correct genital abnormalities. Roentgenological visualization of the genital tract presents a valuable diagnostic aid when employed in pseudohermaphroditic children. REFERENCES BLOOMFIELD, A.: J. Obst. & Gynec., 63: 346-346, 1946. HOFFMAN, J.: Female Endocrinology, Including Sections on the Male. Philadelphia: W. B. Saunders Co., 1944, chapter 38, pp. 641-648. ROBINS, S. A. AND SHAPIRA, A. A.: In Diagnostic Roentgenology, edited by R. Golden. New York: Thomas Nelson and Sons, 1948, vol. 2, chapter 9, pp. 715-754. WERNER, A. A.: Endocrinology, Clinical Application and Treatment. Philadelphia: Lea and Febiger, 1942, chapter 12, pp. 669-718. WITSCHI, E.: In Sex and Internal Secretions, edited by E. Allen. Baltimore: Williams & Wilkins Co., 1939, pp. 146-226.
Vol. 64, No. 6, December 1950 Printed in U.S.A.
ROENTGENOLOGICAL VISUALIZATION OF GENITAL TRACT IN PSEUDOHERMAPHRODISM ROBERT J. McCAFFERY
From the Urological Clinic, St. Vincent's Hospital, Erie, Pa.
Hermaphrodism or gynandromorphism is that state in which the gonads of both sexes are present in the same individual. This condition is classified as: 1) lateral, ovary on one side, testis on the other; 2) unilateral, an ovotestis on one side only; 3) bilateral, an ovotestis on both sides. Pseudohermaphrodism is that state in which the gonad is either male or female with modification of the internal or external genitalia to resemble that of the opposite sex. The term intersexuality is probably better used in the designation of the myriad manifestations of sexual anomalies (Hoffman). There are genetic and hormonal influences on sex differentiation, so we have the further designations of genetical and hormonal intersexuality to distinguish those instances where alteration of sexuality has occurred during the genetical or the hormonal phase of sex differentiation. The genetical sex of a fertilized ovum is dependent upon whether the X chromosome ovum is impregnated by a sperm containing an X chromosome to produce a female or a sperm containing a Y chromosome to produce a male zygote. Hmvever, in the zygote there is the bisexual potentiality evidenced in the resultant embryo by the presence of primordial ovary and testis, wolffian and mullerian duct systems, and the undifferentiated common primordia of the external genitalia. The direction taken by the sex differentiation of the embryo is genetically determined but is altered by hormonal stimuli, probably originating in the gonadal primordium. The cortex produces female and the medulla male differentiating hormone, each of ·which antagonizes or inhibits the other while stimulating the development of the embryonic extragonadal sex characters. Normally, the genetically dominant gonad gains the ascendency and is brought to maturity where it produces the definitive hormones influencing the development of the sex characters into male or female form. True hermaphrodism is probably due to alterations in the bipotential gonadal primordium which prevent the dominant portion of the gonad from exerting complete inhibition of the recessive portion. The recessive portion may survive to develop in various grades of equality and thus produce the bisexual individual. True hermaphrodism is the result of simultaneous development of male and female gonads and can be due only to changes occurring in the early stages of cell division in the fertilized ovum and not to hormonal influence. The types of intersexuality characterized by evidences of pseudohermaphrodism can occur as a result of aberrations of either genetical or hormonal influences. In the former instance the potency of the recessive gonad is above normal and assumes a dominant position later in embryonic life, leading to reversal of sexual Read at annual meeting, X ortheastern Section, American Urological Association, Seigniory Club, Province of Quebec, Canada, October 13, 1948.
791
792
ROBERT J. MCCAFFERY
development. Thus an embryo which has started to develop as a female may begin to develop male dominance and only those sex organs whose imaginal discs were developed before this reversal will be female, while those organs developed thereafter will be male. Hormonal influences in production of intersexuality are: 1) Maternal sex hormone influences; "Witschi postulates the existence in some females of a feminizing gene which causes them to produce, while pregnant, hormones differing in potency from those of the normal individual. Male embryos are affected by these substances and their later developed sex characteristics are differentiated in the female direction. 2) Hormone producing tumors and hyperplasia of the adrenal cortex; Werner gives a classification of adrenal cortical hyperfunction which divides the condition into three periods according to apparent age of onset: Type 1, cortical hyperfunction occurring in embryonal and fetal life, producing pseudohermaphrodism. Type 2, prepubertal and adolescent cortical hyperfunction producing precocious puberty in the child with accentuation of male characteristics in the male and a tendency towards masculinization of the female featured by enlargement of the clitoris, hypertrichosis, masculine voice and configuration and absence of onset of menstruation. Type 3, adult cortical hyperfunction featured by male hair distribution, voice changes, amenorrhea and associated with obesity. This type is due to excess production of androgens by the hyperfunctioning adrenal tissue. That the same substance is culpable in the first two types of adrenogenitalism seems equally evident. In the first it causes alteration ;of predetermined or genetical sex and in the second produces virilism in the female while accentuating the male characteristics of the boy or young man. The entire clinical syndrome known as adrenogenitalism has been also ascribed to lesions elsewhere in the endocrine system, such as basophilic adenoma, hyaline degeneration and sarcoma of the anterior pituitary; arrhenoblastoma of the ovary; thymic tumors and pineal tumors. The diagnosis of sexual or genital aberration occurring postnatally as the result of hormone producing tumors is founded upon history, physical and x-ray findings and hormonal assay. In congenital intersexuality absolute determination of sex is often impossible due to the confusing characteristics of bisexuality. As an adjunct to evidence obtained by history and physical examination we have recently had opportunity to employ roentgen visualization of the genital tract in several varieties of intersexuality. The technique consists of an adaptation of the well recognized procedure of uterotubography and is still in the process of development and refinement. However, it has given valuable diagnostic aid where genital examination in young children has proven difficult and unsatisfactory. The procedure differs from uterotubography in that stress is laid upon visualization of the vagina as to its size and development as well as upon the appearance of the uterus and tubes. The vagina may be absent and its apparent aperture may be a hypospadic male urethra or a remnant of the vaginal portion of the urogenital sinus. Again, the vagina may be invisible at the orifice but join the urethra a short distance proximal to the external meatus. It is only when the vagina and uterus are in normal relationship that visualization comparable to uterotubography can be obtained. It was in an effort to visualize the vagina of a female pseudohermaphrodite that we first obtained a roentgenogram of the uterus and tubes.
ROENTGENOLOGICAL VISUALIZATION OF GENITAL TRACT
793
Uterotubography or hysterosalpingography, according to Robins and Shapira, was first described by Cary in 1914. He made use of collargol and in the period 1914 to 1925 many substances were tried and discarded because they were either insufficiently opaque or caused troublesome reactions. In 1924 St. Portret in France and Heuser in Argentina introduced lipiodol as the medium in uterotubography. It has since been universally used. It is nontoxic, sterile, nonirritating and well tolerated by the peritoneum and other tissues. Lipiodol was used in the cases here reported with the exception of the first where 6 per cent sodium iodide was the contrast medium. Details of technique will be ascribed in the comment upon the individual case. Dangers of uterotubography as given by Robins and Shipira are 1) infection; 2) intravasation; 3) tubal rupture; and 4) abortion. They state that in over 4,800 unselected cases only 3 patients developed evidence of peritonitis, and in each of these operation revealed the presence of pre-existing hydrosalpinx in which infection was rekindled by the injection of the medium. Intravasation of the uterine or ovarian viens was relatively common (5.8 per cent), but this accident usually gave no untoward symptoms and was noted only roentgenographically. Bloomfield states that intravasation may occur with injection just before or after menstruation, closely following dilatation or curettage and use of excessive pressure. Since we are dealing mostly with children, only the last of these predispositions could operate in our cases and no evidences of intravasation were noted. Tubal rupture is a product of inflammation and excessive force of injection. Normal tubes withstand 350-400 mm. of mercury and in the presence of obstruction 290 mm. is given as the maximum safe pressure (Robins and Shapira). However, in children where the mucosa is thin, lesser pressures could probably cause rupture of tubal or uterine lining. Since pregnancy would be unlikely in pseudohermaphrodism, the production of abortion needs no discussion. The contraindications to uterotubography are: 1) infection of vulva, vagina, cervix, urethra or bladder; 2) vaginal bleeding; 3) fever of any cause; 4) pulmonary or cardiac disease. CASE REPORTS
Case 1 (File No. 168015, St. Vincent's Hospital) is that of a 5 year old child (fig. 1, A). The mother was told at the time of birth that the baby had an enlarged clitoris, and the child had been brought up as a girl. The abnormality had undergone no evident change and the child had developed well and apparently normal in all other respects. The mother stated: "The clitoris becomes enlarged when the child urinates but the urine does not appear to come from the clitoris." The past history was negative except for whooping cough at 6 months and chickenpox at the age of 4 years. Physical examination showed no gross abnormalities with exception of the external genitalia where there is a hypertrophied clitoris having a definite glans and prepuce (fig. 1, B). The organ measured 2 cm. in length and 1 cm. in diameter. The urethra vvas not visible externally, but on separation of the labia the urethral orifice was seen to open into the roof of the vagina (fig. 1, C). The vagina was about 3 cm. in depth. Rectal examination was
794
ROBERT J. MCCAFFERY
unsatisfactory. There were no definitely palpable internal genitalia. In an effort to visualize the vagina, a solution of sodium iodide of approximately 6 per cent
L
Fm. 1. Case 1. A, photograph of patient. B, showing enlarged clitoris. C, close-up of external genitalia. D, vagina and bicornate uterus.
was gently inJected by means of a urethral syringe held firmly against the hymenal ring. Six cubic centimeters of solution entered the vagina and an x-ray film was taken while the syringe was still in place (fig. 1, D). The film showed a vagina 32 mm. long and 12 mm. wide. The uterus was seen as a Y-shaped struc-
ROENTGENOLOGICAL VISUALIZATION OF GENITAL TRACT
795
ture. The long arm was 21 mm. and represented the cervix. The right arm measured 13 mm. and the left 19 mm. Diagnosis of a bicornate uterus was made. At operation the above findings were confirmed. The gonads were elongated structures 3 cm. in length and 6 mm. in diameter and bilaterally symmetrical. The proximal end of each gonad vrns continuous with a thin fibrous band attached to the posterior abdominal wall at the lower pole of each kidney. A small section was taken from the left gonad for microscopic examination. No other gonadal tissue could be found in the abdomen, pelvis or inguinal regions. The pathologist reported the biopsied material to be ovarian tissue. Case 2 (File No. 168319) is that of a 5½ year old child, well nourished, well developed and mentally alert, brought to the clinic because of an enlarged clitoris. She weighed 4½ pounds at birth and had spent several months in an
Frn. 2. Case 2. A, normal vagina, uterus and tubes. B, 30 minute excretory urogram Note lipiodol in peritoneal cavity.
incubator; shortly after birth she was unable to void and "some type of operation upon the urethra" was done. She had no urinary symptoms since and gained voluntary control of urination at 1 year of age. The child had been reared as a girl. The family history was negative. Physical examination revealed no abnormalities except those of the genitalia. The labia majora and minora were normal in appearance and the vaginal and urethral orifices normally placed. The clitoris ,vas greatly hypertrophied, measuring 3.5 cm. in length and 1.5 cm. in diameter. The glans was well developed and there was a definite prepuce. A total of 10 cc of lipiodol was injected into the vagina by means of a urethral syringe and the progress of the injection observed under the fluoroscope. A film taken when the opaque medium had outlined the vagina, cervix and uterus (fig. 2, A) shows these structures together with the outline of the fallopian tubes. It is seen that the uterus lies somewhat to the right and is normal in appearance as are the fallopian
796
ROBERT J. MCCAFFERY
tubes. The elongated cervix is characteristic of the infantile or juvenile type of uterus. Figure 2, B shows the same patient thirty minutes after injection of intravenous diodrast. The uterus and tubes are again seen, together with the collection of lipiodol in the peritoneal cavity. The uterus has assumed a more median position. The cervix and vagina are no longer visible. Laparotomy confirmed the above findings and there were normal uterus, tubes, and ovaries
Frn. 3. Case 3. A, male intersex. (Compare with fig. 1, A.) B, bifid scrotum containing right testis; left testis in inguinal canal. C, lipiodol in rudimentary vagina. D, male intersex. Lipiodol fills urethra, vagina and bladder base. Note gynecoid pelvis.
present, with no evidence of male type gonad seen. A small, wedge shaped portion of the left ovary was taken for biopsy. The clitoris was amputated. The pathologist stated "the tissue presented for examination can be readily identified as ovary." Case 3 (File No. 168178) is a 4 year old child presenting the superficial appearance of a normally developed female (fig. 3, A) and who had been brought up as a girl. However, closer inspection of the genitalia revealed that the labia majora are saccular and with child in the erect posture, a testicle could be seen and
ROENTGENOLOGICAL VISUALIZATION OF GENITAL TRACT
797
palpated in each "labium" (fig. 3, B). The phallus was well developed, had a definite glans and prepuce. The urethral meatus was seen between the "labia" and readily admitted a 16 F catheter. There was a small vaginal orifice opening below the urethra. A soft rubber catheter was passed into the vaginal orifice (fig. 3, C) and lipiodol injected. The rudimentary vagina is seen as a tubular structure not more than 1.5 cm. in length. There is no visualization of a cervix or uterus and no evidence that these organs were present. This patient represents a male intersex and the abnormality is probably due to prenatal hormonal imbalance, the effect of which is exerted upon the last stage of genital development. This hormonal influence may be of maternal origin. This type of patient is obviously not benefited by removal of the so-called "enlarged clitoris."
Frn. 4
Case 4 (File No. 168547) demonstrates a 37 year old adult whose life had been passed as a female and whose temperament and reaction was that of a female. Examination revealed a small, movable, globular mass in each inguinal region, normal appearing labia majora and a hypertrophied, erectile clitoris. Retraction of the labia uncovered a common opening of the urethral meatus and of a vestigial vagina. Approximately 20 cc of lipiodol inJected into the apparent orifice of the vagina shows this structure to be a blind pouch (fig. 4). There is no evidence of the presence of a cervix or uterus. The vagina, in reality, opens on the floor of the urethra and the lipiodol readily enters the bladder. The elongation of the urethra, as seen on the film, gives evidence of the presence of an underdeveloped prostate gland but this could not be definitely confirmed by rectal palpation. Here is another instance of male intersexuality due to feminizing hormonal influence. The patient demonstrates the findings thought by Witschi to be those of the most common type of human intersex. These are: fully or partially sterile testes, male gonaducts, a blind vagina, female type external genitalia, fairly well developed breasts, no beard and a high pitched voice. The first phase of
798
ROBERT J. MCCAFFERY
sex differentiation was male, followed by a period during which the last developed secondary sex characters differentiated toward the female. In contradistinction case 3 is an example of male intersex in which the feminizing influence was exerted at a later period of development, hence the male external characters are more evident. The practice of removing the clitoris, while a simple procedure, should be confined to those cases in which there is evidence of well developed mullerian duct structures, namely, fallopian tubes, uterus, cervix and upper vagina such as are represented in cases 1 and 2. We believe that such evidence can be obtained by roentgenological visualization of these structures, as herein demonstrated, and that this relatively simple and innocuous procedure should be used before surgery is contemplated. The study should be employed in all instances where there is evidence of genital abnormality. It is perhaps best done in the preschool child where the psychological pattern is not yet fixed and where a change in apparent sex can be established without the great turmoil which always follows such change-over in the adult. SUMMARY
Adequate diagnosis of intersexuality in children is difficult and places a great burden upon the physician who attempts to correct genital abnormalities. Roentgenological visualization of the genital tract presents a valuable diagnostic aid when employed in pseudohermaphroditic children. REFERENCES BLOOMFIELD, A.: J. Obst. & Gynec., 63: 346-346, 1946. HOFFMAN, J.: Female Endocrinology, Including Sections on the Male. Philadelphia: W. B. Saunders Co., 1944, chapter 38, pp. 641-648. ROBINS, S. A. AND SHAPIRA, A. A.: In Diagnostic Roentgenology, edited by R. Golden. New York: Thomas Nelson and Sons, 1948, vol. 2, chapter 9, pp. 715-754. WERNER, A. A.: Endocrinology, Clinical Application and Treatment. Philadelphia: Lea and Febiger, 1942, chapter 12, pp. 669-718. WITSCHI, E.: In Sex and Internal Secretions, edited by E. Allen. Baltimore: Williams & Wilkins Co., 1939, pp. 146-226.