课件：年性腺疾病的诊断青岛文档资料.ppt

* * * * * * * * * * * * * * * * * * * * * * * * * * * * * * Schematic representation of a grading scheme for clinical classification of AIS. Grades are numbered I through 7 in order of increasing severity (more defective masculinization). Grade 1:normal masculinization in utero; grade 2: male phenotype with mild defect in masculinization (eg, isolated hypospadias); grade 3: male phenotype with severe defect in masculinization—small penis, perineoscrotal hypospadias, bifid scrotum or cryptorchidism; grade 4: severe genital ambiguity— clitoral-like phallus, labioscrotal folds, single perineal orifice; grade 5: female phenotype with posterior labial fusion and clitoromegaly; grade 6/7: female phenotype (grade 6 if pubic hair present in adulthood, grade 7 if no pubic hair in adulthood). (from Quigley CA, DeBellis A, Marschke KB, El-Awady MK, Wilson EM, French FS. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocrine Rev 1995; 1 6(3):282 * * [基础与临床内分泌 第5版543页] A.病史，包括家族史、妊娠史（激素、男性化检查）；腹股沟区和阴茎阴囊触诊；直肠检查；核型分析。B.最初检查：17羟孕酮，雄稀二酮和脱氢雄酮；睾酮和二氢睾酮，血清电解质；输尿管、肾脏及盆腔器官超声检查或MRI。 A. 阴道检查或尿生殖道超声检查；B.内窥镜，剖腹探查，性腺活检（仅限于男性假两性畸形，真两性畸形和非肾上腺女性假两性畸形）；C.血浆17-羟孕酮水平在P450cII缺乏（III型）和3-羟类固醇脱氢酶（IV型）病人中升高。而在P450scc缺乏（V型）者水平低下。 * * * * * * * * * * * * * * * * * * 女性男性化和多毛症，是女性激素性别存在问题的典型表现之一。 * * 女性男性化和多毛症，是女性激素性别存在问题的典型表现之一。 * * 见参考文献[NEJM-Hirsutism P2579] Each of the nine body areas most sensitive to androgen is assigned a score, from 0(no hair) to 4(frankly virile), and these are summed to provide a hormonal hirsutism score. 半数正常妇女有轻度的多毛症，评分在8-15之间；其余多为雄激素水平增加所引起，是提示雄激素过多的重要线索。 * * 多毛症的初步评价 见参考文献[NEJM-Hirsutism P2583] Algorithm for the Initial Evaluation of Hirsutism. Risk assessment includes more than evaluating the degree of hirsutism. Medications that cause hirsutism include anabolic or androgenic steroids (whether these drugs have been used by athletes and patients with endometriosis or sexual dysfunction should be considered). If hirsutism is moderat