17α-hydroxylase deficiency

英

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関

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1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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• 1. 先天性副腎過形成の稀な原因 uncommon causes of congenital adrenal hyperplasia
• 2. 21－ヒドロキシラーゼ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
• 3. 原発性無月経の病因、診断、および治療 etiology diagnosis and treatment of primary amenorrhea
• 4. 副腎ステロイド生合成 adrenal steroid biosynthesis
• 5. 小児における原発性副腎不全の原因および臨床症状 causes and clinical manifestations of primary adrenal insufficiency in children

Japanese Journal

• A 68-Year-Old Phenotypically Male Patient with 21-Hydroxylase Deficiency and Concomitant Adrenocortical Neoplasm Producing Testosterone and Cortisol

• Hayashi Masayuki,Kataoka Yuko,Sugimura Yoshihisa,Kato Fumiko,Fukami Maki,Ogata Tsutomu,Homma Keiko,Hasegawa Tomonobu,Oiso Yutaka,Sasano Hironobu,Tanaka Hiroshi
• The Tohoku Journal of Experimental Medicine 231(2), 75-84, 2013
• … The steroidogenic enzyme 21-hydroxylase is necessary for the synthesis of both glucocorticoids and mineralocorticoids. … 21-hydroxylase is a cytochrome P-450 enzyme and is encoded by the gene CYP21A2. … Here we report a 68-year-old phenotypically 'male' but genetically female patient with 21-hydroxylase deficiency (21OHD) and the concomitant virilizing adrenocortical carcinoma. …
• NAID 130004720753

• 高血圧を呈さない17α水酸化酵素欠損症の遺伝子解析 (特集 小児内分泌学の進歩2011) -- (副腎)

• 勝又 規行,藤原 幾磨,小川 英伸 [他]
• ホルモンと臨床 59(3), 271-274, 2011-03
• NAID 40019373323

• 高血圧をきたす先天性副腎皮質過形成

• 柳瀬 敏彦
• 日本内科学会雑誌 95(4), 657-661, 2006-04-10
• … 先天性副腎過形成は常染色体劣性遺伝形式をとる先天性のステロイド合成酵素異常症であり, 障害酵素の種類により5病型存在するが, 高血圧を呈する病型はチトクロームP450c17活性の障害による17α-水酸化酵素欠損症とP450c11の障害による11β-水酸化酵素欠損症のみである. …
• NAID 10018199055

Related Links

• 17α-hydroxylase deficiency - Springer

Objective: To search for molecular changes in two Argentinian sisters with a clinical and biochemical diagnosis of 17α-hydroxylase deficiency. Subjects: Both patients ha ... Miller, WL (1988) Molecular biology of steroid hormone ...

• 17-Hydroxylase Deficiency Syndrome - Diseases ...

Graphic illustration of deficiency. Absence of C-17α-hydroxylase impairs all sex steroid and cortisol production. Hypogonadism occurs as a result of deficient sex steroid production. DOC mineralocorticoid activity causes sodium ...

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関連記事	「deficiency」

「deficiency」

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• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve