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41.
保留阴蒂头及其血管神经蒂阴蒂成形术 总被引:3,自引:1,他引:2
目的 探讨保留阴蒂头及其血管神经蒂阴蒂成形术在治疗阴蒂肥大中的应用效果。方法 在阴蒂头近端约0.5cm处,环绕阴蒂切开皮肤及浅筋膜,保留阴蒂头及其背侧血管神经蒂,切除肥大阴蒂体部,重塑阴蒂外形。结果 12例女性假两性畸形患者,术后切口均Ⅰ期愈合,再造之阴蒂完全成活,触觉敏感,外阴形态满意。结论 保留阴蒂头及其血管神经蒂阴蒂成形术,可在改善阴蒂外观的同时,保留其感觉及勃起功能,形成符合美学和功能要求的新阴蒂。 相似文献
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Marumudi Eunice Pascal Philibert Bindu Kulshreshtha Françoise Audran Françoise Paris Madan L. Khurana Praveen E. Pulikkanath Kiran Kucheria Charles Sultan Ariachery C. Ammini 《Asian journal of andrology》2008,10(5):815-818
Aim: To identify the genotype of two Indians with male pseudohermaphroditism. Methods: Standard radioimmu-noassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5α-reductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus. Results: We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India. Conclusion: Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect. 相似文献
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男性假两性畸形的诊断和治疗 总被引:3,自引:0,他引:3
目的分析男性假两性畸形的临床特征,提高对男性假两性畸形的诊断和治疗水平。方法回顾性分析6例男性假两性畸形患者的临床资料。结果4例Leydig细胞不发育或发育不全(或睾丸对LH不反应症)患者术后性别为女性,其中1例行人工阴道形成术;3例行腹股沟隐睾摘除术。1例5α-还原酶缺陷症患者行两性畸形纠正+尿道形成术+阴茎弯曲纠正术,术后性别为男性;1例完全雄激素不敏感综合征患者未进一步治疗。结论男性假两性畸形疾病应早期诊断、早期治疗,患者的性别应根据诊断作出选择。 相似文献
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Three patients are described with 46XX genotype, pseudohermaphroditism, a cloaca, and preserved renal function. Endocrinological causes of the phallic enlargement and labial fusion were absent. The increasing number of reports of this constellation of abnormalities is suggestive of a syndrome where embryogenesis is independent of hormonal status. Masculinisation of the external genitalia appears to be secondary to a fundamental derangement of urogenital development. An early anomaly well before sexual differentiation might prevent the genitalia from acquiring their normal, androgen-dependent growth controls, allowing the genital tubercle and genital folds to develop autonomously. 相似文献
48.
R. D. Calaluce T. H. -M. Huang J. T. Quesenberry M. L. Evans A. M. Luger T. A. O'Connor 《Pediatric cardiology》1995,16(5):239-241
A 39-week-old phenotypically female infant was born with hypoplastic left heart syndrome and expired on the third day of life. An autopsy revealed the patient to also have male pseudohermaphroditism and uterus bicornis bicollis. The association of hypoplastic left heart syndrome and male pseudohermaphroditism has been reported in only two previous patients. 相似文献
49.
H. G. Kohler 《American journal of medical genetics. Part A》1983,14(3):423-428
Two siblings, one a male pseudohermaphrodite and the other female, died on the first day of life. In both instances pregnancy was complicated by polyhydramnios. At autopsy each was found to have multiple abnormalities, some concordant, others discordant. The concordant ones were hypoplastic left-heart complex, absent pulmonary lobation, polydactyly, bilateral talipes, and, on microscopic examination, some large atypical cells in the pancreatic islets. Chromosome cultures failed to grow. As far as is known parents were unrelated. Autosomal recessive inheritance is considered a possible cause, and the infants are thought to have the most severe form of the so-called Smith-Lemli-Opitz (RSH) Syndrome. 相似文献
50.
Continuing new insights into the biology of sexual development and advances in chromosome analysis have led to early identification and prompt treatment of the intersexual patient, the results of which facilitate a more normal life for affected individuals. Based on these advances, a classification of abnormal sexual development has been developed and refined that correlates the gonadal and genital anatomy with the chromosomal findings and specific genetic or metabolic defects. In a shift from a classification anchored on whether the intersex revolves about a specific gene or whole chromosomal abnormality, the current classification is organised by broader categories into which the intersexual disorders are divided into 'abnormalities of genital differentiation', due largely to the abnormal production or sensitivity of a single hormone, or 'abnormalities in sex determination', due to abnormal gonadal differentiation, usually testicular, with or without chromosomal aberration. The current classification is an integrated approach to this complex group of disorders and is organised according to the manner by which patients present as well as on the pathophysiological basis of the defect. The classification also groups patients who are at high risk for development of gonadal neoplasia. 相似文献