表现为外阴性别不明的婴儿;病史和外貌最可能与混合型性腺发育不全一致
来源于 Ingrid Holm医生个人收集的资料
表现为外阴性别不明的婴儿;病史和外貌最可能与缺乏 21 羟化酶引起的先天性肾上腺皮质增生症一致
来源于 Ingrid Holm医生个人收集的资料
控制性别决定的不同阶段的基因示例;卵巢决定基因是正在研究的课题
Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017 April [epub ahead of print].
性别分化的示意图。术语:5α-还原酶 (5 alpha-reductase, 5α-R)、抗苗勒管激素 (anti-Müllerian hormone, AMH)、二氢睾酮 (dihydrotestosterone, DHT)
Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017 April [epub ahead of print].
46,XY 型性发育障碍情况下异常睾酮生成(红色)或睾酮作用(紫色)的精选示例。术语:3 β-羟基类固醇脱氢酶缺乏 (3 beta-hydroxysteroid dehydrogenase deficiency, 3β-HSD)、17 α-羟化酶缺乏 (17 alpha-hydroxylase deficiency, 17α-HSD)、17 β-羟基类固醇脱氢酶缺乏 (17 beta-hydroxysteroid dehydrogenase deficiency, 17β-HSD)、雄激素受体 (androgen receptor, AR)、完全雄激素不敏感 (complete androgen insensitivity, CAIS)、部分性雄激素不敏感 (partial androgen insensitivity, PAIS)
Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017 April [epub ahead of print].
46,XX 性发育障碍病例雄激素过多原因的精选示例
Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017 April [epub ahead of print].
外部男性化评分
Created by the BMJ Knowledge Centre based on Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017 April [epub ahead of print].
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