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1. 21-水酸化酵素欠損症による古典的先天性副腎皮質過形成の遺伝学および臨床症状genetics and clinical presentation of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency [show details]
… they may have testicular masses composed of adrenal tissue. Testicular adrenal rest tumors, which are testicular masses composed of adrenal-like tissue,… The combination of cortisol deficiency and epinephrine deficiency puts patients at risk for hypoglycemia with illness or prolonged fasting .…
2. 性分化の差の原因causes of differences of sex development [show details]
…due to 11-beta-hydroxylase deficiency; CAH due to 3-beta-hydroxysteroid dehydrogenase (3-beta-HSD) deficiency; CAH due to P450 oxidoreductase (POR) deficiency; XX testicular/ovotesticular DSD due to SRY …
3. 成人における21－ヒドロキシラーゼ欠損症による古典的な先天性副腎皮質過形成の治療treatment of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency in adults [show details]
…from cortisol deficiency, which becomes evident when an illness precipitates a major catastrophe. In addition, patients who are undertreated and in chronic poor control develop testicular adrenal rest tumors …
4. 性腺刺激ホルモン放出ホルモン単独欠乏症（特発性低ゴナドトロピン性性腺機能低下症）isolated gonadotropin releasing hormone deficiency idiopathic hypogonadotropic hypogonadism [show details]
…congenital adrenal failure (NROB1 deficiency) . While testicular volume is typically prepubertal (ie, <4 mL) in males with IHH, a discrete subset of men with congenital GnRH deficiency can have normal, adult-size …
5. 21-水酸化酵素欠損症による非古典的（遅発性）先天性副腎皮質過形成の遺伝学および臨床症状genetics and clinical presentation of nonclassic late onset congenital adrenal hyperplasia due to 21 hydroxylase deficiency [show details]
… diagnosed because of an affected family member. Boys and men with classic CYP21A2 deficiency often develop testicular masses (testicular adrenal rest tumors). During adulthood, these are often associated with oligospermia …

Japanese Journal

先天性骨盤下肢欠損児の粗大運動発達に関する一考察:義足支援からの検討

竹内知陽,鈴木昭宏,服部義
理学療法学Supplement 2013(0), 1160, 2014
… 在胎37週0日，1980gにて出生，臍帯ヘルニア，鎖肛，右腎欠損，右精巣欠損，腹壁瘢痕ヘルニア，胸腰椎部の潜在性二分脊椎，右腸骨形成不全，右尺側列形成不全による裂手，右下肢形成不全による先天性骨盤下肢欠損の診断を受けた。 …
NAID 130005247316

いわゆる vanishing testis の臨床的検討

寺島和光
日本小児外科学会雑誌 34(4), 787-790, 1998
1985年から1996年までの12年間にnonpalpable testisの診断で143例に手術を行い, このうち101例は明らかな精巣が発見されなかった.患側は左側が72例, 右側が27例, 両側が2例であった.手術ではまず鼠径管を開いて血管, 精管あるいは小塊を探し, 何も発見されない時はさらに外鼠径輪から陰嚢上部付近を調べ, 次いで内鼠径輪よりすぐ上で腹腔内および後腹膜腔を丹念に調べた.そ …
NAID 110002121628