17alpha-hydroxylase deficiency

17α水酸化酵素欠損症、17αヒドロキシラーゼ欠損症

関

17-alpha-hydroxylase deficiency

PrepTutorEJDIC

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

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. Uncommon congenital adrenal hyperplasias
• 2. 副腎ステロイド生合成 adrenal steroid biosynthesis
• 3. Causes of primary amenorrhea
• 4. Evaluation of the infant with atypical genitalia (disorder of sex development)
• 5. 副腎疾患におけるレニン-アンギオテンシン-アルドステロン系の評価 assays of the renin angiotensin aldosterone system in adrenal disease

English Journal

• Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine - stop mutation.

• Escamilla-Márquez MA, Garduño-Garcia Jde J, Ordóñez-Sanchez ML, Reza-Albarrán A, Tusie-Luna MT, Gómez Pérez FJ, Aguilar-Salinas CA.SourceDepartment of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubiran" (INCMNSZ) , Mexico City , Mexico .
• Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.Gynecol Endocrinol.2012 Sep;28(9):733-5. Epub 2012 Feb 6.
• A rare cause of congental adrenal hyperplasia is 17α-hydroxylase deficiency. It results in sexual infantilism, primary amenorrhea in females, pseudohermaphroditism in males, hypertension, and hypokalemia. We studied two female siblings from a rural community in Mexico. The cause of consultation was
• PMID 22309630

• Homozygous CYP17A1 mutation (H373L) identified in a 46,XX female with combined 17α-hydroxylase/17,20-lyase deficiency.

• Lee MH, Won Park S, Yoon TK, Shim SH.SourceDepartment of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Gyeonggi do, Korea. yeegen@cha.ac.kr
• Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.Gynecol Endocrinol.2012 Jul;28(7):573-6. Epub 2012 Mar 28.
• Background: Defects in cytochrome P450c17 are uncommon forms of congenital adrenal hyperplasia caused by CYP17A1 mutations. An H373L mutation in the CYP17A1 gene has been identified in Japanese and Chinese patients. This mutation impairs 17α-hydroxylase and 17,20-lyase activity. Case: A 23-year-old
• PMID 22452398

Related Links

• 17-Hydroxylase Deficiency Syndrome: Background ...

... Lu Z. Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases. Gynecol Endocrinol. 2008 Jul. 24(7):362-7. [Medline]. Bhangoo A, Aisenberg J, Chartoffe A, et al. Novel mutation in J Pediatr. ...

• A case of 17 alpha-hydroxylase deficiency

Discussion 17α-hydroxylase deficiency is a rare form of CAH, with an estimated incidence of 1 in 50,000 to 100,000, and accounts for about 1% of all CAH cases [2,3]. The most common enzyme defect causing CAH is ...

---

★リンクテーブル★

リンク元	「17α水酸化酵素欠損症」「17α-水酸化酵素欠損症」「17αヒドロキシラーゼ欠損症」
関連記事	「deficiency」

「17α水酸化酵素欠損症」

　　[★]

英

17alpha-hydroxylase deficiency、17-alpha-hydroxylase deficiency

関

17αヒドロキシラーゼ欠損症、17α-水酸化酵素欠損症

「17α-水酸化酵素欠損症」

　　[★]

英

17alpha-hydroxylase deficiency

関

17αヒドロキシラーゼ欠損症、17α水酸化酵素欠損症

「17αヒドロキシラーゼ欠損症」

　　[★]

英

17alpha-hydroxylase deficiency

関

17α水酸化酵素欠損症、17α-水酸化酵素欠損症

「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