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Female Pseudohermaphroditism: A Case Presenting Unusual Problems
TI-Il'.; JO"GRKAL OF UROLOG1
Vol. 78, No. 2, August 1957 F'rirded ,£n U.S.,A
FE}\IALE PSEUDOHERMAPHRODITIS.i\1: A CASE PRESENTING UNUSUAL PROBLEMS JOHN E. GLE1'i"
X , a 24-year-old white married man ·was referred to the office on July 1:3, 1951 with the complaint of tenderness in the right lower abdomen accentuated upon physical exertion and noticed for approximately one year ..H.e also noticed swelling of the right lower abdomen at a previous operative site for approximately four months. A lmv lumbar backache had been present for about t,vo months, noticed mostly ,vhen reRting and relieved on motion. The patient stated that he had a congenital penile deformity and believed that his left t.eRticle had been removed at a previous operation. He stated that the penis cunrcd vent.rally on erection. There were no urinary complaints except an occasional buruing on voiding. Nocturia was zero to one time and the patient voided five to six times during the day. There 1vas no history of hematuria or passage of urinary calculi. The patient wa:s found to be of small stature, weighing 128 pounds and approximately 5 feet, 2 inches. The beard was sparse, mostly on the chin. There was very little hair present on the chest and about the nipples. Examination of the abdomen disdot,ed a soft, tender, somewhat movable mass, lateral to the right reetm, 1mrnclc and 5 cm . above the pubic syrnphysis. A_ broad suprapubic miclline scar was present. A marked ehordee ·with penoscrotal hypospadias was found. There was no evidence of abdominal hernias. Rectal examination disdo:-md a small, tender prostate gland. Voided urine showed no sugar ur albumin; 8 to .5 white cells per high pmrnred field were preRent and the pH was 5.5. There waii not suf-fieient speeirnen for a specific gravity determination. The patient was placed on mandelamine and was seen one week later. At that time, the urine speeimeu shmrnd only an occasional white cell and a specific gravity of 1.020. The pH was 7 ..5 and no sugar or albumin was found. In view of the pain und swelling complained of, the patient was hospitalized with a tentative diagnosis of neoplasm of the remaining testicle which had been intra-abdominal for many years. The patient wac1 admitted to the Ellis HospitaL Schenectady, N. Y. on July 24, 1951, and the following day biopsy of the right gonad was obtained. At operation, an incision was made through the skin and subcutaneom, tissue overlying the area of swelling and tenderness. A firm whitish organ ,vas easily identified and appeared to be an ovary. There were several small cystic areas present containing clear and sorn.ewhat brownish bloody fluid. Biopsies were taken from three sites. Hemostasis was easily obtained ,vith fine atraumatie catgut sutures. The skin was closed with black silk sutures. The report of the biopsy showed: "Ovarian tissue showing abundant stroma and a few immature and maturing ova. The capsule is quite thick. No inflan:unatory or neoplastic change. Other fragments show distinct. follicle cyRts." An additional laboratory study of 17-ketosteroids was undertaken and the report was: "Received 1470 cc urine for 24-hour specimen; 3.8 mg. 17-ketosteroids Accepted for publication January 11, 1956. 16\J
170
JOHN E. GLEN
Fm. 1
FIG. 2
in 24 hours. Normal for men, 7-27 mg. per 24 hours." The routine laboratory studies were not remarkable. The patient had an easy postoperative course and was discharged on July 29, 1951. During the stay in the hospital the accompanying photographs (fig. 1) were taken. The patient was seen in the office over a period of 16 months. He had no further complaints of pain or tenderness. About fourteen months after operation he became concerned about the inability of his wife to conceive. He stated that he felt there was some loss of sexual desire, and intercourse was reduced from four or five times per week, to once a week since operation. He stated that ejaculation occurred and consisted only of a few drops of fluid which he was unable to collect for examination. He also stated that for approximately six months he noticed an increase in hair growth on his chest and about the nipples and shaved every one and a half to two days. He also inquired as to the advisability of surgery for correction of his genital deformity with straightening of the chordee and repair of the hypospadias. The patient was not encouraged to have this done. Past history: Review of the past history of this patient disclosed three previous hospital admissions. On the first occasion, the patient was admitted on September 21, 1944 and discharged on September 28, 1944. The final diagnosis was bilateral abdominal ectopic testes and hypospadias. The patient underwent right orchiopexy with fixation to the pubic symphysis. The patient at operation was thought on palpation to have the internal organs of an apparently normal male but with extremely short spermatic cords. The right testicle was delivered from the abdomen with considerable difficulty due to the shortening. The testicle was sutured to the periosteum of the symphysis with a chromic suture through the gubernaculum. The postoperative course was uneventful.
FJcMALJ,; PSEUDOHERMAPHHODITISM.
171
The patient was readmitted to the hm,pital for the second time on November 9, 1944 and discharged on November 20, 1944 with a final diagnosis of pseudohermaphroditism. At operation, the gonad, previously thought to be a left testicle and epididyn1is, was found to be a tube and ovary. This was removed and palpation of the area posterior to the bladder disclosed a firm enlargement which was thought to be a probable rudimentary uterus. The bladder was distended with water and a suprapubic cystotomy was done. The gonad, previously operated upon and considered to be a right testicle, was found on palpation to be fixed to the upper border of the pubic symphysis. The specimen submitted to the laboratory showed the following results: "Biopsy left (testicle) (tissue?). Specimen consists of ,~ix pieces of grayish tissue which are identified as follmn:: One piece, the largest, measures 3.5 by 3 by 1.5 cm. It has a partially smooth outer surface and whe11 sectioned closely simulates an ovary in which there is a cortex containing ,small cysts filled with clear fluid; one of these cysts measures 0.,5 cm. in diameter. The medullary portion is grayish-white and fibrous and also contains a cyst OA cm. in diameter filled with brownish clot. Another piece of tissue is [j cm. long and 0.6 cm. in diameter. It is cylindric with outer smooth, grayish-brown surfaces. At one end are structures suggesting :fimbriaL The other four pieces are nondescript grayish fragments with brownish blood clot attached and which resemble ovarian tissue. Fallopian tube: Early acute inflarn-· mation. Kumerous polynuclears on the serosa and surrounding blood vessels. Ovary: Small follicular cysts, otherwise normal Niany ova in cortex. :Fragmeuts of ovarian tissue: ~ onnal." The postoperative course was again uneventful and the patient was discharged in good condition with a cystotomy tube in place. He was readmitted to the hospital for the third time on January 20, 1945 and was discharged January 22, 194,5 with the same diagnosis of pseudohermaphroditism. A cystoscopy was done under general anesthesia which disclosed a normal bladder. Ohservation of the posterior urethra was done to determine the presence of any abnormalities ·which could not be found or located. The cystotomy tube was removed and the patient again discharged in good condition. :Family history: Fnrther study of the family history was made and proved to be most interesting. It was found that this entire family had been studied from a genetic standpoint by the late Dr. Judson B. Gilbert of Schenectady, New York and Dr. James Han1ilton of Long Island, New York and reported ver-bally at a meeting in Chicago. This study, Lo the best of my knowledge, never appeared in print. The mother and father were alive and well, as were seven children. Three of the children presented obvious external genital abnormalities . The other five ,vere norm.al females. One member of this family died during an exploratory laparotomy. The cause of death was not determined. The only common factor found in this entire family appeared to be that of short stature. In considering this case, several very important factors are brought to mind. In the opinion of the writer, it would hardly seern justifiable to infonn the patient of the establishment beyond doubt of the sex being that of a female. ].'he patient has lived his entire life as a male and is gainfully employed as a
172
JOHN E. GLEN
chauffeur. He has married and is apparently living a satisfactory sexual life. One of his great regrets, and that of his wife's is their inability to produce children. His wife has made several visits to a gynecologist because of the existing sterility problem. After a time, the wife made it clear that she understood she would never become pregnant and was apparently content to drop the entire matter. The gynecologist who had referred the patient originally was consulted and concurred with the writer that an explanation to the patient of his condition might well result in possible drastic action even to the point of self destruction. He and the writer also felt that such a disclosure might well result in the disruption of a marital relationship. In addition, the opinion of three other urologists was obtained. It was the feeling of all three that the interests of the patient might best be served by not informing him of the findings. It was not considered advisable to discuss this matter with the patient's parents as they are quite aged and have a marked language barrier. Consequently, at the time of the writing of this paper, no attempt has been made to discuss the situation with either the patient or his parents. CONCLUSION AND SUMMARY
An interesting case history is presented in which it has been found that a happy marriage is existing between a female pseudohermaphrodite and a normal female. In view of the above findings, it would seem that the disclosure of the details of this case to the patient would obviously be disastrous to the lives of a couple who are enjoying a happy and normal marriage. The author wishes to thank Dr. T. Adinolfi and Miss Eilleen Doyle of Schenectady, New York for making the presentation of this case possible.
1044 Lexington Ave., Schenectady, N . Y.
Vol. 78, No. 2, August 1957 F'rirded ,£n U.S.,A
FE}\IALE PSEUDOHERMAPHRODITIS.i\1: A CASE PRESENTING UNUSUAL PROBLEMS JOHN E. GLE1'i"
X , a 24-year-old white married man ·was referred to the office on July 1:3, 1951 with the complaint of tenderness in the right lower abdomen accentuated upon physical exertion and noticed for approximately one year ..H.e also noticed swelling of the right lower abdomen at a previous operative site for approximately four months. A lmv lumbar backache had been present for about t,vo months, noticed mostly ,vhen reRting and relieved on motion. The patient stated that he had a congenital penile deformity and believed that his left t.eRticle had been removed at a previous operation. He stated that the penis cunrcd vent.rally on erection. There were no urinary complaints except an occasional buruing on voiding. Nocturia was zero to one time and the patient voided five to six times during the day. There 1vas no history of hematuria or passage of urinary calculi. The patient wa:s found to be of small stature, weighing 128 pounds and approximately 5 feet, 2 inches. The beard was sparse, mostly on the chin. There was very little hair present on the chest and about the nipples. Examination of the abdomen disdot,ed a soft, tender, somewhat movable mass, lateral to the right reetm, 1mrnclc and 5 cm . above the pubic syrnphysis. A_ broad suprapubic miclline scar was present. A marked ehordee ·with penoscrotal hypospadias was found. There was no evidence of abdominal hernias. Rectal examination disdo:-md a small, tender prostate gland. Voided urine showed no sugar ur albumin; 8 to .5 white cells per high pmrnred field were preRent and the pH was 5.5. There waii not suf-fieient speeirnen for a specific gravity determination. The patient was placed on mandelamine and was seen one week later. At that time, the urine speeimeu shmrnd only an occasional white cell and a specific gravity of 1.020. The pH was 7 ..5 and no sugar or albumin was found. In view of the pain und swelling complained of, the patient was hospitalized with a tentative diagnosis of neoplasm of the remaining testicle which had been intra-abdominal for many years. The patient wac1 admitted to the Ellis HospitaL Schenectady, N. Y. on July 24, 1951, and the following day biopsy of the right gonad was obtained. At operation, an incision was made through the skin and subcutaneom, tissue overlying the area of swelling and tenderness. A firm whitish organ ,vas easily identified and appeared to be an ovary. There were several small cystic areas present containing clear and sorn.ewhat brownish bloody fluid. Biopsies were taken from three sites. Hemostasis was easily obtained ,vith fine atraumatie catgut sutures. The skin was closed with black silk sutures. The report of the biopsy showed: "Ovarian tissue showing abundant stroma and a few immature and maturing ova. The capsule is quite thick. No inflan:unatory or neoplastic change. Other fragments show distinct. follicle cyRts." An additional laboratory study of 17-ketosteroids was undertaken and the report was: "Received 1470 cc urine for 24-hour specimen; 3.8 mg. 17-ketosteroids Accepted for publication January 11, 1956. 16\J
170
JOHN E. GLEN
Fm. 1
FIG. 2
in 24 hours. Normal for men, 7-27 mg. per 24 hours." The routine laboratory studies were not remarkable. The patient had an easy postoperative course and was discharged on July 29, 1951. During the stay in the hospital the accompanying photographs (fig. 1) were taken. The patient was seen in the office over a period of 16 months. He had no further complaints of pain or tenderness. About fourteen months after operation he became concerned about the inability of his wife to conceive. He stated that he felt there was some loss of sexual desire, and intercourse was reduced from four or five times per week, to once a week since operation. He stated that ejaculation occurred and consisted only of a few drops of fluid which he was unable to collect for examination. He also stated that for approximately six months he noticed an increase in hair growth on his chest and about the nipples and shaved every one and a half to two days. He also inquired as to the advisability of surgery for correction of his genital deformity with straightening of the chordee and repair of the hypospadias. The patient was not encouraged to have this done. Past history: Review of the past history of this patient disclosed three previous hospital admissions. On the first occasion, the patient was admitted on September 21, 1944 and discharged on September 28, 1944. The final diagnosis was bilateral abdominal ectopic testes and hypospadias. The patient underwent right orchiopexy with fixation to the pubic symphysis. The patient at operation was thought on palpation to have the internal organs of an apparently normal male but with extremely short spermatic cords. The right testicle was delivered from the abdomen with considerable difficulty due to the shortening. The testicle was sutured to the periosteum of the symphysis with a chromic suture through the gubernaculum. The postoperative course was uneventful.
FJcMALJ,; PSEUDOHERMAPHHODITISM.
171
The patient was readmitted to the hm,pital for the second time on November 9, 1944 and discharged on November 20, 1944 with a final diagnosis of pseudohermaphroditism. At operation, the gonad, previously thought to be a left testicle and epididyn1is, was found to be a tube and ovary. This was removed and palpation of the area posterior to the bladder disclosed a firm enlargement which was thought to be a probable rudimentary uterus. The bladder was distended with water and a suprapubic cystotomy was done. The gonad, previously operated upon and considered to be a right testicle, was found on palpation to be fixed to the upper border of the pubic symphysis. The specimen submitted to the laboratory showed the following results: "Biopsy left (testicle) (tissue?). Specimen consists of ,~ix pieces of grayish tissue which are identified as follmn:: One piece, the largest, measures 3.5 by 3 by 1.5 cm. It has a partially smooth outer surface and whe11 sectioned closely simulates an ovary in which there is a cortex containing ,small cysts filled with clear fluid; one of these cysts measures 0.,5 cm. in diameter. The medullary portion is grayish-white and fibrous and also contains a cyst OA cm. in diameter filled with brownish clot. Another piece of tissue is [j cm. long and 0.6 cm. in diameter. It is cylindric with outer smooth, grayish-brown surfaces. At one end are structures suggesting :fimbriaL The other four pieces are nondescript grayish fragments with brownish blood clot attached and which resemble ovarian tissue. Fallopian tube: Early acute inflarn-· mation. Kumerous polynuclears on the serosa and surrounding blood vessels. Ovary: Small follicular cysts, otherwise normal Niany ova in cortex. :Fragmeuts of ovarian tissue: ~ onnal." The postoperative course was again uneventful and the patient was discharged in good condition with a cystotomy tube in place. He was readmitted to the hospital for the third time on January 20, 1945 and was discharged January 22, 194,5 with the same diagnosis of pseudohermaphroditism. A cystoscopy was done under general anesthesia which disclosed a normal bladder. Ohservation of the posterior urethra was done to determine the presence of any abnormalities ·which could not be found or located. The cystotomy tube was removed and the patient again discharged in good condition. :Family history: Fnrther study of the family history was made and proved to be most interesting. It was found that this entire family had been studied from a genetic standpoint by the late Dr. Judson B. Gilbert of Schenectady, New York and Dr. James Han1ilton of Long Island, New York and reported ver-bally at a meeting in Chicago. This study, Lo the best of my knowledge, never appeared in print. The mother and father were alive and well, as were seven children. Three of the children presented obvious external genital abnormalities . The other five ,vere norm.al females. One member of this family died during an exploratory laparotomy. The cause of death was not determined. The only common factor found in this entire family appeared to be that of short stature. In considering this case, several very important factors are brought to mind. In the opinion of the writer, it would hardly seern justifiable to infonn the patient of the establishment beyond doubt of the sex being that of a female. ].'he patient has lived his entire life as a male and is gainfully employed as a
172
JOHN E. GLEN
chauffeur. He has married and is apparently living a satisfactory sexual life. One of his great regrets, and that of his wife's is their inability to produce children. His wife has made several visits to a gynecologist because of the existing sterility problem. After a time, the wife made it clear that she understood she would never become pregnant and was apparently content to drop the entire matter. The gynecologist who had referred the patient originally was consulted and concurred with the writer that an explanation to the patient of his condition might well result in possible drastic action even to the point of self destruction. He and the writer also felt that such a disclosure might well result in the disruption of a marital relationship. In addition, the opinion of three other urologists was obtained. It was the feeling of all three that the interests of the patient might best be served by not informing him of the findings. It was not considered advisable to discuss this matter with the patient's parents as they are quite aged and have a marked language barrier. Consequently, at the time of the writing of this paper, no attempt has been made to discuss the situation with either the patient or his parents. CONCLUSION AND SUMMARY
An interesting case history is presented in which it has been found that a happy marriage is existing between a female pseudohermaphrodite and a normal female. In view of the above findings, it would seem that the disclosure of the details of this case to the patient would obviously be disastrous to the lives of a couple who are enjoying a happy and normal marriage. The author wishes to thank Dr. T. Adinolfi and Miss Eilleen Doyle of Schenectady, New York for making the presentation of this case possible.
1044 Lexington Ave., Schenectady, N . Y.