nonclassic 21-hydroxylase deficiency

非古典的21-水酸化酵素欠損症

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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. 21－ヒドロキシラーゼ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
• 2. 21－ヒドロキシラーゼ欠損症による非古典的（遅発性）先天性副腎皮質過形成の診断および治療 diagnosis and treatment of nonclassic late onset congenital adrenal hyperplasia due to 21 hydroxylase deficiency
• 3. 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
• 4. 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診断 diagnosis of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency
• 5. 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

English Journal

• Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia.

• Kim MS1, Goodarzian F2, Keenan MF3, Geffner ME1, Koppin CM3, De Filippo RE4, Kokorowski PJ5.
• The Journal of urology.J Urol.2017 Mar;197(3 Pt 2):931-936. doi: 10.1016/j.juro.2016.09.072. Epub 2016 Nov 10.
• PMID 27840017

• High serum progesterone associated with infertility in a woman with nonclassic congenital adrenal hyperplasia.

• Kawarai Y1, Ishikawa H1, Segawa T2, Teramoto S2, Tanaka T3, Shozu M1.
• The journal of obstetrics and gynaecology research.J Obstet Gynaecol Res.2017 Feb 11. doi: 10.1111/jog.13288. [Epub ahead of print]
• PMID 28188961

• CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY PRESENTING AS ADRENAL INCIDENTALOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS.

• Falhammar H, Torpy DJ.
• Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.Endocr Pract.2016 Jun;22(6):736-52. doi: 10.4158/EP151085.RA. Epub 2016 Feb 26.
• OBJECTIVE: Adrenal incidentalomas (AIs) may be due to congenital adrenal hyperplasia (CAH) due to homozygous CYP21A2 mutations, or perhaps from heterozygous carrier status. It is unclear if genetic or biochemical testing of CYP21A2 status in AI is justified, despite its potential for avoiding adrena
• PMID 26919651

Japanese Journal

• マススクリーニングで発見された非古典型21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2009)

• 勝又 規行,品川 隆,田苗 綾子 [他]
• ホルモンと臨床 57(12), 1017-1020, 2009-12
• NAID 40017371608

• Nonclassic Steroid 21-Hydroxylase Deficiency due to a Homozygous V281L Mutation in CYP21A2 Detected by the Neonatal Mass-Screening Program in Japan

• SHINAGAWA TAKASHI,HORIKAWA REIKO,ISOJIMA TSUYOSHI,NAIKI YASUHIRO,TANAKA TOSHIAKI,KATSUMATA NORIYUKI
• Endocrine journal 54(6), 1021-1025, 2007-12-01
• NAID 10021264156

• Nonclassic Steroid 21-Hydroxylase Deficiency due to a Homozygous V281L Mutation in CYP21A2 Detected by the Neonatal Mass-Screening Program in Japan

• SHINAGAWA Takashi,HORIKAWA Reiko,ISOJIMA Tsuyoshi,NAIKI Yasuhiro,TANAKA Toshiaki,KATSUMATA Noriyuki
• Endocrine Journal 54(6), 1021-1025, 2007
• … The mass screening has detected not only the patients with the classic form of steroid 21-hydroxylase deficiency (21-OHD), but also those with the nonclassic (NC) form of 21-OHD, and the molecular basis in these patients has been elucidated. …
• NAID 130004443329

Related Links

• Diagnosis and treatment of nonclassic (late-onset) congenital ...

Witchel SF, Nayak S, Suda-Hartman M, Lee PA. Newborn screening for 21-hydroxylase deficiency: results of CYP21 molecular genetic analysis. J Pediatr 1997; 131:328. Speiser PW, White PC. Congenital adrenal hyperplasia. N ...

• 21-hydroxylase deficiency - Genetics Home Reference

21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the ...

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★リンクテーブル★

リンク元	「非古典的21-水酸化酵素欠損症」
関連記事	「deficiency」「nonclassic」

「非古典的21-水酸化酵素欠損症」

　　[★]

英

nonclassic 21-hydroxylase deficiency

「deficiency」

　　[★]

• 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

　

「nonclassic」

　　[★]

• 非古典的な、非定型性の

関

atypia、atypical、nonclassical