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Urinoma of the fallopian tube in virilizing congenital adrenal hyperplasia
Volume 109 Number 3
Clinical and laboratory observations
495
Urinoma of the fallopian tube in virilizing congenital adrenal hyperplasia Francine Ratner Kaufman, M.D., Brian E. Hardy, M.D., Ch.B, Bernice S. Law, M.D., and Gertrude Costin, M.D. From the Division of Endocrinology and Metabolism, Department of Pediatrics, and the Departments of Radiology and Surgery, Chitdrens Hospital of Los Angeles, University of Southern California School of Medicine, Los Angeles
Female patients with congenital adrenal hyperplasia typically are born with a common urogenital sinus, labial fusion, and clitoromegaly. ~ The common urogenital sinus allows for the reflux or pooling of urine into the vagina, and has been reported to predispose to urinary tract infection.: W e describe an infant with congenital adrenal hyperplasia who developed urinary reflux into the vagina and the miillerian ducts, leading to massive dilation of one of the fallopian tubes.
Submitted for publication April 21, 1986; accepted May 14, 1986. Reprint requests: Francine Ratner Kaufman, M.D., Division of Endocrinology and Metabolism, Childrens Hospital of Los Angeles, 4650 Sunset Blvd., Los Angeles, CA 90027.
hyperplasia secondary to 21-hydroxylase deficiency was made, and glucocorticoid replacement therapy was begun. At 10 days of age she experienced salt loss requiring mineralocorticoid and salt supplementation. At 3 months of age she was noted to have abdominal distention with ascites and a lobulated mass in the left lower quadrant. Ultrasound examination revealed a 3.5 X 4 cm cystic mass with multiple internal septations in the left adnexal area (Fig. 1). Fluid was present in the uterus, vagina, and peritoneal cavity (Fig. 2). Multiple septations and synechiae were noted within the ascitic fluid. A presumptive diagnosis of ovarian cystic teratoma was made, and a laparotomy was performed. A large urinoma distending the entire left fallopian tube, which was adherent to the left ovary, was found; a left salpingo-oophorectomy with lysis of abdominal adhesions was performed. Urine was noted to be present in the uterus, vagina, and peritoneal cavity. Cystoscopy revealed that the urethra entered the vagina 2 cm proximal to the perineal urogenital sinus orifice and immediately distal to the external urethral sphincter. An extremely small perineal orifice obstructed urine flow so that there was reflux of urine into the miillerian ducts. Postoperatively, intermittent catheterization of the vagina through the urogenital sinus orifice was performed. However, reaccumulation of urine in the peritoneal cavity and uterus was noted on ultrasound examination after 3 weeks. Therefore the labia were split and the urogenital sinus was
Fig. '1. Sagittal scan of left adnexal area demonstrates 3.5 • 4 cm round cystic mass with multiple internal septations. Ascites is also present.
Fig. 2. Sagittal scan of pelvis shows fluid in uterus (U), vagina (V), and peritoneal cavity (P).
CASE REPORT This 3-month-old 46,XX infant with salt-losing 21-hydroxylase deficiency was referred to Childrens Hospital of Los Angeles with a large abdominal mass. The patient was born with a 3 cm phallic structure, fusion of the labioscrotal folds, and a small urogenital sinus orifice at the perineum. The diagnosis of congenital adrenal
496
Clinical and laboratory observations
opemxl. A perineal skin flap was advanced to the level of the distal urethral meatus. No evidence of urine reflux into the uterus or fallopian tube was noted on follow-upultrasound examination at 2 and 489 months after surgery, although a small amount of fluid was noted in the vagina. DISCUSSION Our patient demonstrates a very rare complication of virilization of the external genitalia in females with congenital adrenal hyperplasia. Because of the fusion of the labia and an extremely small urogenital sinus orifice at the perineum, urine refluxed into the vagina and into the miillerian ducts. For unexplained reasons, the path of least resistance for urine flow was through the uterus and into the left fallopian tube, leading to massive dilation of the fallopian tube. Because of reports of increased tumor risk in congenital adrenal hyperplasia, this mass was originally believed to represent an ovarian teratoma. 3,4 When urine reaccumulated after the initial surgery, despite catheterization of the vagina, separation of the labial fusion and distal vaginoplasty was performed to relieve urinary obstruction. A more complete vaginoplasty may be required later.
The Journal of Pediatrics September 1986
Children with congenital adrenal hyperplasia who have small urogenital sinus openings with near total labial fusion should be evaluated for the need for "prophylactic" separation of the labia. Periodic ultrasound examinations for evidence of urinary reflux into the vagina and mfillerian ducts should also be considered. We recommend consideration of early surgery to relieve urinary obstruction. We thank Dr. Karynyan Arul for referring the patient to us. REFERENCES 1. Grumbach MM, Ducharme JR. Effects of androgens on fetal sexual development: androgen-induced female pseudohermaphroditism. Fertil Steril 1960;11:157-80. 2. Rosenberg B, Hendren WH, Crawford JD. Posterior urethrovaginal communication in apparent males with congenital adrenocortical hyperplasia. N Engl J Med 1969;280:131-4. 3. Duck SC. Malignancy associated with congenital adrenal hyperplasia. J PEDIATR1981;99:423-4. 4. Brown WW, Toyoma P, Gonzales W. Multiple uterine leiomyomas developed in the presence of a high androgen environment secondary to adrenogenital syndrome. Obstet Gynecol 1970;35:255-9.
Superior mesenteric artery stenosis: Cause of recurrent ischemic bowel syndrome in an infant W. E. Berquist, M.D., A. S. Gomes, M.D., M. E. A m e n t M.D., R. S. Sparkes, M.D., and David Diehl, M.D. From the Departments of Pediatrics (Divisionsof Gastroenterology and Genetics), Radiologic Sciences, and internal Medicine, UCLA Medical Center, Los Angeles
Intestinal ischemia occurs in infants as a result of either thrombosis or occlusion of the superior mesenteric artery, ~ in "apple peel" deformity) and in the course of necrotizing enterocolitis.3 Such cases have been diagnosed at autopsy or at laparotomy. This report documents superior mesenteric artery stenosis in association with chronic diarrhea, bouts of pneumatosis intestinalis, and hematochezia in an infant.
Submitted for publication Nov. 11, 1985; accepted April 29, 1986. Reprint requests: William E. Berquist, M.D., MDCC 22-340, Department of Pediatrics, UCLA Medical Center, 10833 LeConte Ave., Los Angeles, CA 90024.
CASE REPORT This 4300 gm infant boy was born after a full-term pregnancy to a 29-year-old white woman by normal spontaneous vaginal delivery; Apgar scores were 5 at 1 minute and 6 at 5 minutes. The pregnancy had been complicated only by an upper respiratory tract infection. The patient developed moderate respiratory distress in the immediate perinatal period, requiring brief tracheal intubation and placement of an umbilical artery line. Multiple anomalies were noted at birth, including low posterior hairline, prominent antitragus, absent pinnae, wide nasal bridge, choanal atresia, pits within the vermilion border of the lower lip, systolic cardiac murmur, small umbilical hernia, first-degree hypespadias, short thumbs, spade-shaped fingers, bilateral pes equinovarusdeformity, eczema, and clinodactyly of the right foot with the fifth toe overriding the fourth. Trypsin-Giemsa chromosome handing of fibroblast cells showed only cells with 46, XY,
Clinical and laboratory observations
495
Urinoma of the fallopian tube in virilizing congenital adrenal hyperplasia Francine Ratner Kaufman, M.D., Brian E. Hardy, M.D., Ch.B, Bernice S. Law, M.D., and Gertrude Costin, M.D. From the Division of Endocrinology and Metabolism, Department of Pediatrics, and the Departments of Radiology and Surgery, Chitdrens Hospital of Los Angeles, University of Southern California School of Medicine, Los Angeles
Female patients with congenital adrenal hyperplasia typically are born with a common urogenital sinus, labial fusion, and clitoromegaly. ~ The common urogenital sinus allows for the reflux or pooling of urine into the vagina, and has been reported to predispose to urinary tract infection.: W e describe an infant with congenital adrenal hyperplasia who developed urinary reflux into the vagina and the miillerian ducts, leading to massive dilation of one of the fallopian tubes.
Submitted for publication April 21, 1986; accepted May 14, 1986. Reprint requests: Francine Ratner Kaufman, M.D., Division of Endocrinology and Metabolism, Childrens Hospital of Los Angeles, 4650 Sunset Blvd., Los Angeles, CA 90027.
hyperplasia secondary to 21-hydroxylase deficiency was made, and glucocorticoid replacement therapy was begun. At 10 days of age she experienced salt loss requiring mineralocorticoid and salt supplementation. At 3 months of age she was noted to have abdominal distention with ascites and a lobulated mass in the left lower quadrant. Ultrasound examination revealed a 3.5 X 4 cm cystic mass with multiple internal septations in the left adnexal area (Fig. 1). Fluid was present in the uterus, vagina, and peritoneal cavity (Fig. 2). Multiple septations and synechiae were noted within the ascitic fluid. A presumptive diagnosis of ovarian cystic teratoma was made, and a laparotomy was performed. A large urinoma distending the entire left fallopian tube, which was adherent to the left ovary, was found; a left salpingo-oophorectomy with lysis of abdominal adhesions was performed. Urine was noted to be present in the uterus, vagina, and peritoneal cavity. Cystoscopy revealed that the urethra entered the vagina 2 cm proximal to the perineal urogenital sinus orifice and immediately distal to the external urethral sphincter. An extremely small perineal orifice obstructed urine flow so that there was reflux of urine into the miillerian ducts. Postoperatively, intermittent catheterization of the vagina through the urogenital sinus orifice was performed. However, reaccumulation of urine in the peritoneal cavity and uterus was noted on ultrasound examination after 3 weeks. Therefore the labia were split and the urogenital sinus was
Fig. '1. Sagittal scan of left adnexal area demonstrates 3.5 • 4 cm round cystic mass with multiple internal septations. Ascites is also present.
Fig. 2. Sagittal scan of pelvis shows fluid in uterus (U), vagina (V), and peritoneal cavity (P).
CASE REPORT This 3-month-old 46,XX infant with salt-losing 21-hydroxylase deficiency was referred to Childrens Hospital of Los Angeles with a large abdominal mass. The patient was born with a 3 cm phallic structure, fusion of the labioscrotal folds, and a small urogenital sinus orifice at the perineum. The diagnosis of congenital adrenal
496
Clinical and laboratory observations
opemxl. A perineal skin flap was advanced to the level of the distal urethral meatus. No evidence of urine reflux into the uterus or fallopian tube was noted on follow-upultrasound examination at 2 and 489 months after surgery, although a small amount of fluid was noted in the vagina. DISCUSSION Our patient demonstrates a very rare complication of virilization of the external genitalia in females with congenital adrenal hyperplasia. Because of the fusion of the labia and an extremely small urogenital sinus orifice at the perineum, urine refluxed into the vagina and into the miillerian ducts. For unexplained reasons, the path of least resistance for urine flow was through the uterus and into the left fallopian tube, leading to massive dilation of the fallopian tube. Because of reports of increased tumor risk in congenital adrenal hyperplasia, this mass was originally believed to represent an ovarian teratoma. 3,4 When urine reaccumulated after the initial surgery, despite catheterization of the vagina, separation of the labial fusion and distal vaginoplasty was performed to relieve urinary obstruction. A more complete vaginoplasty may be required later.
The Journal of Pediatrics September 1986
Children with congenital adrenal hyperplasia who have small urogenital sinus openings with near total labial fusion should be evaluated for the need for "prophylactic" separation of the labia. Periodic ultrasound examinations for evidence of urinary reflux into the vagina and mfillerian ducts should also be considered. We recommend consideration of early surgery to relieve urinary obstruction. We thank Dr. Karynyan Arul for referring the patient to us. REFERENCES 1. Grumbach MM, Ducharme JR. Effects of androgens on fetal sexual development: androgen-induced female pseudohermaphroditism. Fertil Steril 1960;11:157-80. 2. Rosenberg B, Hendren WH, Crawford JD. Posterior urethrovaginal communication in apparent males with congenital adrenocortical hyperplasia. N Engl J Med 1969;280:131-4. 3. Duck SC. Malignancy associated with congenital adrenal hyperplasia. J PEDIATR1981;99:423-4. 4. Brown WW, Toyoma P, Gonzales W. Multiple uterine leiomyomas developed in the presence of a high androgen environment secondary to adrenogenital syndrome. Obstet Gynecol 1970;35:255-9.
Superior mesenteric artery stenosis: Cause of recurrent ischemic bowel syndrome in an infant W. E. Berquist, M.D., A. S. Gomes, M.D., M. E. A m e n t M.D., R. S. Sparkes, M.D., and David Diehl, M.D. From the Departments of Pediatrics (Divisionsof Gastroenterology and Genetics), Radiologic Sciences, and internal Medicine, UCLA Medical Center, Los Angeles
Intestinal ischemia occurs in infants as a result of either thrombosis or occlusion of the superior mesenteric artery, ~ in "apple peel" deformity) and in the course of necrotizing enterocolitis.3 Such cases have been diagnosed at autopsy or at laparotomy. This report documents superior mesenteric artery stenosis in association with chronic diarrhea, bouts of pneumatosis intestinalis, and hematochezia in an infant.
Submitted for publication Nov. 11, 1985; accepted April 29, 1986. Reprint requests: William E. Berquist, M.D., MDCC 22-340, Department of Pediatrics, UCLA Medical Center, 10833 LeConte Ave., Los Angeles, CA 90024.
CASE REPORT This 4300 gm infant boy was born after a full-term pregnancy to a 29-year-old white woman by normal spontaneous vaginal delivery; Apgar scores were 5 at 1 minute and 6 at 5 minutes. The pregnancy had been complicated only by an upper respiratory tract infection. The patient developed moderate respiratory distress in the immediate perinatal period, requiring brief tracheal intubation and placement of an umbilical artery line. Multiple anomalies were noted at birth, including low posterior hairline, prominent antitragus, absent pinnae, wide nasal bridge, choanal atresia, pits within the vermilion border of the lower lip, systolic cardiac murmur, small umbilical hernia, first-degree hypespadias, short thumbs, spade-shaped fingers, bilateral pes equinovarusdeformity, eczema, and clinodactyly of the right foot with the fifth toe overriding the fourth. Trypsin-Giemsa chromosome handing of fibroblast cells showed only cells with 46, XY,