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Perineal reconstruction in ambiguous genitalia infants raised as females
ABSTRACTS
was made in 93 following a suprapubic tap and in the remaining 7 following two separate bag-urine collections. After treatment of the infections each infant had both an intravenous urogram and a micturating cysto-urethrogram. There were 68 boys and 32 girls in the series. Forty-seven of the infants had radiological abnormalities, 40% of the boys and 63% of the girls. Twenty-nine of the 100 infants had an "important abnormality," such as grade 3 or 4 reflux (14), reflux nephropathy (10), or obstruction (5) requiring surgery. Of 10 preterm infants, 6 had a radiological abnormality, and 4 of these had grade 3 or 4 reflux. Spontaneous resolution or improvement occurred in 3 of these by the time of the repeat micturating cystourethrogram at 6 months. The fourth infant required reimplantation of the ureter.-Alasdair H.B. Fyfe Perinea| Reconstruction in Ambiguous Genitalia Infants Raised as Females. P.K. Donahoe and W.H. Hendren. A n n
Surg 200:363-371, (September), 1984. Sixty-six patients with ambiguous genitalia underwent reconstruction of the perineum to achieve a feminine phenotype. These included 30 patients with adrenogenital syndrome or female pseudohermaphroditism, 13 with mixed gonadal dysgenesis, 21 male pseudohermaphrodites, and two true hermaphrodites. Perineal reconstruction should he done early to prevent subconscious rejection of the child. Repair of these infants can be done as early as the neonatal period, but preferably at 3 to 6 months of age. The distinctive features of the repair include clitoral recession, labioscrotal reduction, and vaginal exteriorization. The first and most important determination, made cystoscopically, is the position of entry of the vagina into the urethra or urogenital sinus. If the vagina enters distal to the external sphincter, a flap vaginoplasty can be performed. "High" adrenogenital syndrome requires a more complicated pull-through vaginoplasty. The factors affecting the choice of gender and the details and timing of the surgical techniques are described.--Richard J. Andrassy Paediatric Surgical Principles in the Management of Children with Intersex. M. Bolkenius, R. Daum, and E. Hein-
rich. Prog Pediatr Surg 17:33~8, 1984. A child with gonadal dysgenesis, 46 XY chromosome analysis, and rather "female" external genitalia is masculinized by hormone substitution, chordee correction, and orchidopexy before the age of two. Later he has further hypospadias repair. A second child, who is a true hermaphrodite, is feminized by the early use of hormones and plastic reconstruction of the clitoris and labia. Remodelling of the introitus and vagina are left to the age of 9 to 12 years. The need for early determination of the gender for rearing is emphasized together with full endocrinological and morphological assessment.--R.C.M. Cook Operative Correction of Intersexual Genitals in Children.
W. Ch. Heeker. Prog Pediatr Surg 17:21 31, 1984. Intersexual forms of genitalia occur in 2% to 3% of children. True hermaphrodites and male and female pseudohermaphrodites must be distinguished. Investigation by chro-
197
mosome analysis, hormonal assessment, and radiography are essential. Early diagnosis with surgery to produce the chosen external genitalia before the second birthday are important. Gonads should be removed from true hermaphrodites because of the high risk of malignancy. Plastic operations on the vagina and displacement of the clitoris are done by the author at the same time. A combined abdominoperineal approach is recommended for vaginal aplasia.--R.C.M. Cook The Radiological Diagnosis of the Sinus Urogenitalis. J.
TrOger and [. Greinaeher. Prog Pediatr Surg I7:11-20, 1984. In normal embryology the uroreetal septum (Tourneux fold) moves the gut opening posteriorly and separates it from the urogenital sinus. Growth of the vaginal plate similarly shortens and obliterates the urogenital sinus, lengthens the urethra, and separates urethra and vagina. Radiologic investigation by flushing contrast medium through a catheter in the opening of a persistent urogenital sinus, combined with suprapubic bladder puncture and excretion urography, has, in the authors' hands, accurately defined the extent and relationships of such malformations.--R.C.M. Cook Endocrinological Problems in Malformation of the Male Genitalia. J. Glatzl. Prog Pediatr Surg 17:1-10, 1984.
Aplasia and malformations of the external male genitalia arise from defective androgen synthesis in the gonads, failure to convert testosterone to the active dihydrotestosterone, or unresponsiveness of the receptor sites, including the skin of the genital region. Placental or fetal hormone production defects may be influential from early in development, and fetal Sertoli cells transiently produce an antimiillerian hormone between the 6th and 7th weeks. Defective production or utilization of this hormone leads to a significantly enlarged utriculus. Specific enzyme defects can now be accurately identified in many boys with hypospadias and ambiguous genitalia.--R.C.M. Cook Hydrometrocolpos: Current Views on Pathogenesis and Management. J. Hahn-Pedersen, N. Kvist, and O. H. Niel-
sen. J Urol 132:537-540, (September), 1984. Although not well appreciated, hydrometrocolpos with urinary distention may occur in some cases due to a persistent urogenital sinus or cloaca. The authors report 3 cases of urinary and 8 cases of secretory hydrometroeolpos. The frequency of associated anomalies, especially in the urogenital tract, was high (9 of 11 patients). This was the most important factor in determining the morbidity and mortality. Of the patients 2 died, Nine are alive and healthy, demonstrating that the prognosis of hydrometrocolpos is excellent. The diagnosis of hydrometrocolpos should no longer be difficult to determine. The most important step is a thorough vaginal examination, although modern imaging methods may be helpful. The aim of treatment is distal vaginal drainage, which can be achieved by a perineal procedure in most cases. Laparotomy is indicated only in cases of high vaginal atresia, which require a vaginal pull-through procedure.--George Holcomb, Jr.
was made in 93 following a suprapubic tap and in the remaining 7 following two separate bag-urine collections. After treatment of the infections each infant had both an intravenous urogram and a micturating cysto-urethrogram. There were 68 boys and 32 girls in the series. Forty-seven of the infants had radiological abnormalities, 40% of the boys and 63% of the girls. Twenty-nine of the 100 infants had an "important abnormality," such as grade 3 or 4 reflux (14), reflux nephropathy (10), or obstruction (5) requiring surgery. Of 10 preterm infants, 6 had a radiological abnormality, and 4 of these had grade 3 or 4 reflux. Spontaneous resolution or improvement occurred in 3 of these by the time of the repeat micturating cystourethrogram at 6 months. The fourth infant required reimplantation of the ureter.-Alasdair H.B. Fyfe Perinea| Reconstruction in Ambiguous Genitalia Infants Raised as Females. P.K. Donahoe and W.H. Hendren. A n n
Surg 200:363-371, (September), 1984. Sixty-six patients with ambiguous genitalia underwent reconstruction of the perineum to achieve a feminine phenotype. These included 30 patients with adrenogenital syndrome or female pseudohermaphroditism, 13 with mixed gonadal dysgenesis, 21 male pseudohermaphrodites, and two true hermaphrodites. Perineal reconstruction should he done early to prevent subconscious rejection of the child. Repair of these infants can be done as early as the neonatal period, but preferably at 3 to 6 months of age. The distinctive features of the repair include clitoral recession, labioscrotal reduction, and vaginal exteriorization. The first and most important determination, made cystoscopically, is the position of entry of the vagina into the urethra or urogenital sinus. If the vagina enters distal to the external sphincter, a flap vaginoplasty can be performed. "High" adrenogenital syndrome requires a more complicated pull-through vaginoplasty. The factors affecting the choice of gender and the details and timing of the surgical techniques are described.--Richard J. Andrassy Paediatric Surgical Principles in the Management of Children with Intersex. M. Bolkenius, R. Daum, and E. Hein-
rich. Prog Pediatr Surg 17:33~8, 1984. A child with gonadal dysgenesis, 46 XY chromosome analysis, and rather "female" external genitalia is masculinized by hormone substitution, chordee correction, and orchidopexy before the age of two. Later he has further hypospadias repair. A second child, who is a true hermaphrodite, is feminized by the early use of hormones and plastic reconstruction of the clitoris and labia. Remodelling of the introitus and vagina are left to the age of 9 to 12 years. The need for early determination of the gender for rearing is emphasized together with full endocrinological and morphological assessment.--R.C.M. Cook Operative Correction of Intersexual Genitals in Children.
W. Ch. Heeker. Prog Pediatr Surg 17:21 31, 1984. Intersexual forms of genitalia occur in 2% to 3% of children. True hermaphrodites and male and female pseudohermaphrodites must be distinguished. Investigation by chro-
197
mosome analysis, hormonal assessment, and radiography are essential. Early diagnosis with surgery to produce the chosen external genitalia before the second birthday are important. Gonads should be removed from true hermaphrodites because of the high risk of malignancy. Plastic operations on the vagina and displacement of the clitoris are done by the author at the same time. A combined abdominoperineal approach is recommended for vaginal aplasia.--R.C.M. Cook The Radiological Diagnosis of the Sinus Urogenitalis. J.
TrOger and [. Greinaeher. Prog Pediatr Surg I7:11-20, 1984. In normal embryology the uroreetal septum (Tourneux fold) moves the gut opening posteriorly and separates it from the urogenital sinus. Growth of the vaginal plate similarly shortens and obliterates the urogenital sinus, lengthens the urethra, and separates urethra and vagina. Radiologic investigation by flushing contrast medium through a catheter in the opening of a persistent urogenital sinus, combined with suprapubic bladder puncture and excretion urography, has, in the authors' hands, accurately defined the extent and relationships of such malformations.--R.C.M. Cook Endocrinological Problems in Malformation of the Male Genitalia. J. Glatzl. Prog Pediatr Surg 17:1-10, 1984.
Aplasia and malformations of the external male genitalia arise from defective androgen synthesis in the gonads, failure to convert testosterone to the active dihydrotestosterone, or unresponsiveness of the receptor sites, including the skin of the genital region. Placental or fetal hormone production defects may be influential from early in development, and fetal Sertoli cells transiently produce an antimiillerian hormone between the 6th and 7th weeks. Defective production or utilization of this hormone leads to a significantly enlarged utriculus. Specific enzyme defects can now be accurately identified in many boys with hypospadias and ambiguous genitalia.--R.C.M. Cook Hydrometrocolpos: Current Views on Pathogenesis and Management. J. Hahn-Pedersen, N. Kvist, and O. H. Niel-
sen. J Urol 132:537-540, (September), 1984. Although not well appreciated, hydrometrocolpos with urinary distention may occur in some cases due to a persistent urogenital sinus or cloaca. The authors report 3 cases of urinary and 8 cases of secretory hydrometroeolpos. The frequency of associated anomalies, especially in the urogenital tract, was high (9 of 11 patients). This was the most important factor in determining the morbidity and mortality. Of the patients 2 died, Nine are alive and healthy, demonstrating that the prognosis of hydrometrocolpos is excellent. The diagnosis of hydrometrocolpos should no longer be difficult to determine. The most important step is a thorough vaginal examination, although modern imaging methods may be helpful. The aim of treatment is distal vaginal drainage, which can be achieved by a perineal procedure in most cases. Laparotomy is indicated only in cases of high vaginal atresia, which require a vaginal pull-through procedure.--George Holcomb, Jr.