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91.
92.
Perineal sagittal approaches (posterior sagittal anorectoplasty and anterior and posterior sagittal transanorectal approaches) allow complete anatomic exposure of the perineum and lower pelvis. Moreover, they reduce the risk of damaging important structures because the incision is led in the midline. Therefore, many surgeons have used these approaches to treat diseases other than anorectal malformations (ARM), including intestinal dysganglionosis, trauma, pseudohermaphroditism, presacral mass, and rectal duplication. The aim of this study was to describe a small series of patients operated on via these approaches at Gaslini Childrens Hospital over a 5-year period. We retrospectively evaluated 10 patients consecutively operated on via a perineal sagittal approach, with or without sphincteric structure involvement, between January 1997 and December 2001. All of these patients were without ARM. Indications included retrorectal abscesses (two), iatrogenic anal canal stenosis (one), postinflammatory anal canal stenosis (one), internal anal sphincter neurogenic achalasia (one), female pseudohermaphroditism (one), benign sacrococcygeal teratomas (two), malignant sacrococcygeal teratoma (one), and perineal rhabdomyosarcoma (one). Protective colostomy was used in four patients. The parameters that we analysed included technical details, possible complications, perineal cosmetic appearance, and outcome. No complications were experienced. The postoperative cosmetic perineal appearance was excellent in all patients, and continence, when assessed, was always considered satisfactory. All tumours underwent complete gross resection. However, one patient with malignant sacrococcygeal teratoma died as a result of the malignant process 2 years after surgery. Although our study was carried out on a small series of patients, it confirmed that perineal sagittal approaches can be used not only for ARM but also for other conditions involving perirectal pouches, presacral space, and urogenital structures, as these approaches are safe and provide excellent cosmetic results as well as satisfactory functional outcome. Although tumours can be treated via these approaches, outcome remains related to the nature and malignancy of the disease itself. 相似文献
93.
Nine female adolescents with female pseudohermaphroditism resulting from virilizing congenital adrenocortical hyperplasia (CAH) were studied in terms of gender identity, sex-role behavior, psychological adjustment, and psychosexual development. A group of adolescents with chronic illess was used as a control. The Draw-A-Person, the Bem Sex-Role Inventory, Rorschach, TAT, and a questionnaire reviewing peer and romantic activities were administered to both groups. The two groups were comparable on measures of general personality adjustment, with the CAH girls showing a trend toward greater bodily concerns. Sex-role identity for both groups was near the adolescent girl norms for both Femininity and Masculinity, with virilized CAH girls showing slightly higher Androgyny scores. Significant differences were found on gender identity as measured by greater differentiation of the drawn male figure as well as a trend toward drawing the male figure first. The CAH females also showed consistent patterns of psychosocial delay in dating and sexual relations as compared to the control group. Gender identity in this group appears to be mediated by body image. The resulting ambivalence may be evidence of feelings of incompetence, leading to resistance to social interactions and goals involving intimacy and nurturance. 相似文献
94.
95.
J. A. SCHIPPER H. A. DELEMARRE-V. D. WAAL M. JANSEN M. A. J. SPRANGERS 《Acta paediatrica (Oslo, Norway : 1992)》1991,80(1):125-128
ABSTRACT. Aberrations of fetal sexual development were studied in two retarded phenotypic female 46, XY dysgonadal sisters from a consanguineous marriage. Endocrine evaluation revealed an inadequate response of plasma-testosterone to human chorionic gonadotropin (hCG) stimulation and a normal response to adrenocorticotropic hormone (ACTH) administration. At exploratory laparotomy dysgenetic testes and remnants of the Müllerian and of the Wolffian duct were found. Loss of testicular function, resulting in male pseudohermaphroditism (MPH), can occur at different times during intrauterine development, resulting in a variety of clinical manifestations. A thorough evaluation is warranted in all patients in order to reach a correct diagnosis which is of importance for appropriate gender assignment and genetic counseling. 相似文献
96.
Fryns J. P. Kleczkowska A. Vandenberghe K. Haspeslagh M. Van den Berghe H. 《European journal of pediatrics》1984,142(2):137-138
Complete masculinisation of the external genitalia (type V of Prader classification) is reported in two siblings with normal internal female genitalia, normal ovaries and a 46,XX chromosome constitution in different cell lines without any detectable source of exposure to androgen during pregnancy. 相似文献
97.
Leonard Pinsky Morris Kaufman Cipia Straisfeld Barbara Zilahi Conrad St.-G. Hall John M. Opitz 《American journal of medical genetics. Part A》1978,1(4):407-416
Serially subcultured fibroblast strains from genital (foreskin, labium majus) skin, as a group, have considerably more steroid (testosterone) 5α-reductase activity than those from nongenital skin. Foreskin strains varied 40-fold and labial strains even more. Labial strains overlapped nongenital strains of either sex more frequently than did prepuce strains. The activity of foreskin strains from two siblings with proven 5α-reductase deficiency was clearly lower than that of any of 18 control strains. The comparative behavior of the various strain types indicates that labial and nongenital strains should not be used to support a clinical suspicion of male pseudohermaphroditism due to 5α-reductase deficiency. The activities of labial strains from patients with complete androgen insensitivity (testicular feminization) – five with the recptor-negative variety and two with the receptor-positive type – were as variable as those of control labial strains. The decreased 5α-reductase activity observed in fresh skin slices of some patients is probably an expression of their functional estrogen/ androgen imbalance in vivo. 相似文献
98.
Andréa Trevas Maciel-Guerra Gil Guerra Jr Sofia Helena V L Marini Maria Tereza Matias Baptista Antonia Paula Marques-de-Faria 《Clinical genetics》1997,51(5):351-353
We report on a rare case of female pseudohermaphroditism due to classical 21-hydroxylase deficiency associated with Turner syndrome (45,X/46,XX). Difficulties in the management of both diseases are briefly discussed. We regard this rare combination as a coincidental occurrence. 相似文献
99.
A newborn patient with E-triso my syndrome and male pseudohermaphroditism is described. At autopsy the internal genital organs were found to be ambiguous with a bicornuate uterus and rudimentary Fallopian tubes. The testes and epididymis showed normal gross and microscopic appearance, while the deferential ducts were hypoplastic and ended as Gärtner's canals on both sides of the rudimentary utero-vaginal canal. The failure of the embryonic testes to sup press the Müllerian ducts in this patient is probably not a result of the genetic imbalance caused by the chromosome aberration, but rather a fortuitous event related to the phenomenon encountered in the uterine hernia syndrome. 相似文献
100.