新女性医学大系 17 性の分化とその異常

出版社: 中山書店
著者:
発行日: 2002-02-28
分野: 臨床医学:外科  >  産婦人科学
ISBN: 9784521544311
電子書籍版: 2002-02-28 (第1版第1刷)
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性分化異常の基礎から臨床までを、1冊で記述した日本初の成書である。本書を通じて、性分化異常の診断から外科的・内科的治療、治療後の身体的・精神的ケアのすべてを修得できる。巻頭では性分化の最新の基礎知識を詳説し、啓蒙書の役割も担っている。

目次

  • 表紙
  • 執筆者一覧
  • 目次
  • 生殖器系の発生・解剖・機能
  • I 生殖器系の発生と解剖
  • 1. 三胚葉の発生
  • 2. 性腺の発生
  • 3. 精巣の発生
  • 4. 卵巣の発生
  • 5. 生殖管の発生
  • 6. 生殖管系の分化
  • 7. 腟の発生
  • 8. 外性器の分化
  • 9. 男性外性器の発生
  • 10. 女性外性器の発生
  • 11. 付属性腺の分化
  • 12. 鼠径管の発生
  • 13. 精巣下降
  • 14. 卵巣下降
  • II 性決定・分化と分子機構
  • A. 正常性分化のプロセス
  • 1. 性腺形成
  • a. ステップ1 : 接合体から未分化性腺が形成される過程
  • b. ステップ2 : 未分化性腺の性特異的分化が選択される過程
  • c. ステップ3 : 未分化性腺から胎児精巣が形成される過程
  • d. ステップ4 : 未分化性腺から胎児卵巣が形成される過程
  • e. ステップ5 : 胎児精巣から成人精巣が形成される過程
  • f. ステップ6 : 胎児卵巣から成人卵巣が形成される過程
  • 2. 性管および外性器分化
  • B. 生殖細胞の発生を司る遺伝子機構
  • 1. 生殖細胞の発生・分化機構
  • a. マウスPGCの起源と形成機構
  • b. PGCの移動
  • c. PGCの増殖, 分化, 細胞死
  • 2. 性腺の形成機構
  • a. SRY
  • b. WT1
  • c. SOX-9
  • d. DAX-1
  • e. Ad4BP/SF-1
  • f. Wnt-4
  • g. MIS
  • C. X・Y染色体の進化
  • 1. X染色体とY染色体
  • 2. 哺乳類のX染色体 ― 大野の法則
  • 3. 単孔類, 有袋類のX染色体
  • 4. ヒト性染色体の進化
  • 5. X染色体の不活性化
  • D. ゲノムインプリンティング
  • 1. 卵ゲノムと精子ゲノムの違い
  • 2. インプリンティングを受ける遺伝子
  • 3. DNAメチル化の役割
  • 4. ゲノムインプリンティングの起源
  • E. 性決定・分化に関与する遺伝子とその異常
  • i. 性の分化と染色体・遺伝子
  • 1. 性の決定・分化機構の探索の歴史的背景
  • a. 性の決定と分化の仕組み
  • b. Y染色体と精巣決定因子
  • c. Y染色体以外の精巣決定因子
  • 2. 性腺の性決定にかかわるSRYの上位遺伝子
  • 3. 性腺の性決定にかかわる候補遺伝子
  • ii. 中枢の性分化 ― 女の脳・男の脳
  • 1. 脳の性分化とアンドロゲンの芳香化 ― ラットなどの実験動物の場合
  • 2. ヒトの脳の性分化とアンドロゲン
  • 3. 脳内におけるアンドロゲン受容体の分布
  • 4. 発生過程における性ホルモンのニューロンへの作用 ― 神経回路形成の調節
  • 5. 性ホルモンによるニューロン数の調節
  • 6. ヒトの脳における性的二型神経細胞グループ
  • 7. 性的指向とジェンダーアイデンティティとアンドロゲン
  • 8. 脳の認知機能の性差
  • 9. 子供の遊びのパターンや自由画の性差
  • 10. 脳重や脳の部位的な男女差
  • おわりに ― 脳の性分化と遺伝子のかかわり
  • iii. 内性器の分化
  • 1. 性腺の分化・発達
  • 2. 内性器の分化
  • 3. 内性器の分化・発達誘導因子
  • a. アンドロゲン
  • b. アンドロゲン受容体 (AR)
  • c. Muller管 (傍中腎管) 抑制物質 (因子)
  • iv. 外性器の分化
  • 1. 外性器の分化における内分泌学的影響
  • 2. 外性器の分化に関与する遺伝子
  • a. 5α-還元酵素に関与する遺伝子
  • b. ARに関与する遺伝子
  • c. その他の外性器の発生に関与する遺伝子
  • 性分化異常の臨床
  • I 性分化異常総論
  • A. 早期診断と取り扱い
  • 1. 性の分化
  • 2. 性分化異常症
  • a. XX男性
  • b. XY女性
  • c. 真性半陰陽
  • d. 副腎性器症候群
  • e. 精巣性女性化症候群
  • f. Turner症候群
  • 3. 性成熟の異常
  • a. 思春期早発症
  • b. 思春期遅発症
  • B. 性染色体の構造異常と臨床
  • 1. 性染色体と遺伝子
  • 2. Y染色体構造異常と臨床
  • 3. X染色体構造異常と臨床
  • 4. 性染色体の構造異常の種類と対応
  • a. 染色体構造異常
  • b. 過剰マーカー染色体
  • c. 遺伝相談と実際
  • d. 染色体異常の告知
  • II 性分化異常各論
  • A. 性腺分化異常
  • i. Turner症候群
  • 1. 病因
  • a. 45, Xの核型
  • b. モザイク
  • c. 構造異常
  • 2. 頻度
  • 3. 症状
  • a. 低身長
  • b. 性腺機能不全
  • c. 外表奇形
  • d. 心奇形, 腎奇形
  • e. 耐糖能異常, 糖尿病
  • 4. 診断
  • 5. 治療
  • a. 成長ホルモン治療
  • b. エストロゲン治療
  • c. 成人Turner症候群女性のケア
  • ii. Noonan症候群
  • 1. 定義, 概念
  • 2. 病因
  • 3. 頻度
  • 4. 症状
  • 5. 診断, 鑑別診断
  • 6. 治療, 予後
  • iii. XY型性腺形成異常症
  • 1. 定義, 概念
  • 2. 病因
  • 3. 症状, 臨床像
  • 4. 診断, 鑑別診断
  • a. 内分泌検査成績
  • b. 染色体分析
  • c. PCR-SSCP法による解析
  • d. 直接塩基配列決定法による解析
  • e. XY型性腺形成異常症における遺伝子異常
  • 5. 治療
  • iv. XX型性腺形成異常症
  • 1. XX型性腺形成異常症
  • 2. XX男性
  • 3. 真性半陰陽
  • 4. 性腺形成への考察
  • v. 混合型性腺形成異常症
  • 1. 定義
  • 2. 染色体構成
  • 3. 臨床症状および身体所見
  • 4. 診断
  • 5. 治療
  • vi. ポリソミーX女性 (superfemale)
  • 1. 定義
  • 2. 病因
  • 3. 頻度
  • 4. 症状
  • a. トリプルX
  • b. テトラソミーX
  • c. ペンタソミーX
  • 5. 診断
  • 6. 治療
  • vii. Klinefelter症候群
  • 1. 歴史, 定義
  • 2. 病因
  • 3. 頻度
  • 4. 臨床所見
  • a. 臨床症状
  • b. 性腺機能
  • c. 知能, 性格
  • d. 合併症
  • e. Klinefelter症候群の亜型
  • 5. 診断
  • 6. 治療
  • viii. XYY個体
  • 1. 概念, 病因
  • 2. 頻度
  • 3. 臨床像
  • 4. 診断
  • 5. 今後の課題
  • ix. 精子形成不全とAZF
  • 1. 精子形成不全と遺伝子異常
  • 2. 精子形成関連遺伝子AZFとは
  • 3. 男性不妊症患者におけるAZF遺伝子異常の頻度
  • 4. AZF遺伝子の子孫への伝播
  • 5. AZF遺伝子異常検索のためのDNA検査の実際
  • 6. AZF遺伝子検索とインフォームドコンセント
  • 7. AZF遺伝子解明と男性不妊症治療
  • B. 生殖管・外性器分化異常
  • i. 真性半陰陽
  • 1. 概念
  • 2. 頻度・染色体構成からみた病因
  • 3. 臨床所見, 臨床検査所見
  • 4. 診断, 鑑別診断
  • a. 診断, 病理組織学的検査
  • b. 性腺の存在部位と性腺の存在様式
  • 5. 治療の概略
  • ii. 副腎性器症候群
  • 1. 臨床像
  • a. 21-水酸化酵素 (21-OH) 欠損症
  • b. 11β-水酸化酵素欠損症
  • 2. 治療
  • a. グルココルチコイド療法
  • b. 外科的治療法
  • 3. 症例
  • iii. 非副腎性女性半陰陽
  • 1. アロマターゼ (エストロゲン合成酵素) 欠損症
  • 2. アンドロゲン作用のある薬剤による女性仮性半陰陽
  • 3. 母体のアンドロゲン産生腫瘍による女性仮性半陰陽
  • 4. 尿生殖器系の形成異常による女性仮性半陰陽
  • iv. アンドロゲン合成障害
  • 1. アンドロゲン合成経路の概略
  • 2. 性分化過程におけるアンドロゲンの生理作用
  • 3. アンドロゲン合成障害の病因と症状
  • a. 主に未分化性腺期に関連するアンドロゲン合成障害
  • b. 主に性決定期に関連すると考えられるアンドロゲン合成障害
  • c. 主に内・外性器形成期あるいはそれ以降に関連するアンドロゲン合成障害
  • 4. アンドロゲン合成障害治療原則
  • v. アンドロゲン不応症
  • 1. 疾患の概要
  • 2. アンドロゲンの作用機序
  • 3. アンドロゲン不応症候群
  • 4. 5α-還元酵素欠損症
  • vi. 先天性副腎リポイド過形成
  • 1. ステロイドホルモンとStARタンパク質
  • 2. 先天性副腎リポイド過形成
  • a. 先天性副腎リポイド過形成の臨床
  • b. 遺伝子変異
  • c. 病因・病態生理
  • d. 実験動物モデル
  • 3. StARタンパク質
  • a. 細胞内のコレステロール輸送機序
  • b. 下垂体ホルモンのステロイドホルモン産生細胞への作用
  • c. StARタンパク質クローニングの経緯
  • d. StARタンパク質の機能および発現
  • e. StARタンパク質のホモログ
  • f. StARタンパク質の構造と機能
  • g. StAR遺伝子の発現
  • vii. 内性器の奇形・位置異常
  • 1. 内性器の奇形
  • 2. 内性器の位置異常
  • viii. 外因性ホルモンによる異常
  • 1. 薬剤の胎児への影響
  • 2. 性腺, 内・外性器の分化
  • 3. 外因性ホルモンによる性分化異常および外性器異常
  • a. 外因性プロゲスターゲン, アンドロゲンによる女性仮性半陰陽
  • b. 外因性プロゲスターゲンによる男性仮性半陰陽
  • c. 外因性エストロゲンによる外性器異常
  • d. その他
  • 4. 内分泌攪乱 (化学) 物質
  • a. 作用機序
  • b. 内分泌攪乱物質の精子数への影響
  • c. 内分泌攪乱物質の外性器への影響
  • C. 性同一性障害
  • i. 病態と診断
  • 1. 今, なぜ性同一性障害なのか
  • 2. 性同一性障害とは
  • 3. 性同一性障害でみられる症状
  • a. 反対の性別に対して強く惹かれる
  • b. 自分の身体の性を強く嫌う
  • c. 日常生活で反対の性別役割をとろうとする
  • 4. 性同一性障害の診断
  • a. 生物学的性別の決定
  • b. 性の自己意識 (ジェンダー) の決定
  • c. 除外診断
  • d. 診断の手続き
  • e. 診断に際して配慮すべきこと
  • 5. 性同一性障害の症状と他症候との違い
  • a. 性嗜好障害との違い
  • b. 服装倒錯症との違い
  • c. 性同一性障害と性別違和症候群, 性転換症
  • d. 性同一性障害と性対象
  • e. 性同一性障害の症状にみられる性差
  • 6. 治療
  • a. 第1段階 (精神療法)
  • b. 第2段階 (ホルモン療法)
  • c. 第3段階 (手術療法)
  • 7. 性同一性障害の成因
  • a. 性の分化とジェンダーの確立
  • b. 脳の構造の性差と性同一性障害
  • ii. 治療
  • 1. 治療の原則
  • 2. 精神療法
  • 3. ホルモン療法
  • a. ホルモン療法の開始条件
  • b. 男性から女性へ
  • c. 女性から男性へ
  • 4. 手術療法
  • a. 性別適合手術の定義
  • b. 女性から男性への性別適合手術
  • c. 男性から女性への性別適合手術
  • III 性分化異常症の治療
  • A. 薬物療法
  • i. 小児
  • 1. 性決定の基本法則
  • 2. 薬物療法
  • a. 先天性副腎皮質過形成の治療
  • b. 矮小陰茎に対する治療
  • c. 男性ホルモン補充療法
  • d. 女性ホルモン補充療法
  • ii. 成人
  • 1. 成人における先天性副腎皮質過形成の概略
  • a. リポイド副腎過形成 (Prader症候群)
  • b. 21-ヒドロキシラーゼ欠損症
  • c. 11β-ヒドロキシラーゼ欠損症
  • d. 3β-ヒドロキシステロイドデヒドロゲナーゼ (3β-HSD) 欠損症
  • e. 17α-ヒドロキシラーゼ / 17,20-リアーゼ欠損症
  • f. 成人CAHの治療
  • 2. 男性化症候群
  • a. 男性化の症候
  • b. 成熟女性におけるアンドロゲンの産生源
  • c. 病因
  • d. 診断
  • 3. 治療
  • B. 外科的治療
  • i. 婦人科領域
  • 1. 腟欠損症
  • a. 腟形成術施行の時期
  • b. 造腟法の種類
  • c. 腹腔鏡併用低侵襲性造腟術
  • d. Davydov法
  • 2. 腟横中隔
  • 3. 腟縦中隔
  • 4. 双角子宮, 中隔子宮
  • 5. 性腺形成異常症における性腺摘除術
  • ii. 泌尿器科・外科領域
  • 1. 外科的治療の対象疾患
  • 2. 性腺・付属器の生検・切除
  • 3. 男性化外陰形成術
  • 4. 女性化外陰形成術
  • a. 陰核形成術
  • b. 陰唇形成術
  • c. 腟形成術
  • C. 心理的ケア
  • i. 小児
  • 1. Turner症候群
  • a. 診断時のケア
  • b. 本人への説明
  • c. 本人, および家族の会
  • 2. 21-水酸化酵素欠損症
  • a. 小児期の心理的ケア
  • b. 思春期の心理的ケア
  • c. 本人, および家族の会
  • 3. その他の性分化異常症
  • a. 診断時の両親への説明
  • b. 本人への説明
  • c. 本人, および家族の会
  • ii. 成人
  • 1. Turner症候群
  • 2. アンドロゲン不応症候群
  • 3. 真性半陰陽, 先天性副腎皮質過形成
  • 4. 産科婦人科疾患と関連せずに見出された性分化異常
  • 5. 遺伝カウンセリングにあたっての医療サイドの立場
  • Glossary
  • 索引
  • 和文索引
  • 欧文索引
  • 奥付

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