21-hydroxylase deficiency

出典: meddic

21-ヒドロキシラーゼ欠損症

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英文文献

  • CHARACTERISATION OF THREE NOVEL CYP11B1 MUTATIONS in CLASSIC AND NON-CLASSIC 11β-HYDROXYLASE DEFICIENCY.
  • Polat S1, Kulle A, Karaca Z, Akkurt I, Kurtoglu S, Kelestimur F, Grötzinger J, Holterhus PM, Riepe F.Author information 1S Polat, Department of Medical Genetics, Erciyes University, Kayseri, Turkey.AbstractBACKGROUND: Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine diseases. Steroid 11-hydroxylase (P450c11) deficiency (11OHD) is the second most common form of CAH.
  • European journal of endocrinology / European Federation of Endocrine Societies.Eur J Endocrinol.2014 Feb 17. [Epub ahead of print]
  • BACKGROUND: Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine diseases. Steroid 11-hydroxylase (P450c11) deficiency (11OHD) is the second most common form of CAH.AIM: The aim of the study was to study the functional consequences of three novel CYP
  • PMID 24536089
  • Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.
  • Ma D1, Chen Y1, Sun Y1, Yang B1, Cheng J1, Huang M1, Zhang J1, Zhang J1, Hu P1, Lin Y1, Jiang T2, Xu Z3.Author information 1State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210029, China.2State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210029, China. Electronic address: jiangzhang784@163.com.3State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210029, China. Electronic address: njxzf@126.com.AbstractOBJECTIVE: 21-Hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired cortisol synthesis. This study aimed to design a reliable and rational approach for identifying mutations in the CYP21A2 gene and to characterize the molecular basis of 21-OHD in 30 Chinese patients.
  • Clinical biochemistry.Clin Biochem.2014 Feb 3. pii: S0009-9120(14)00047-2. doi: 10.1016/j.clinbiochem.2014.01.019. [Epub ahead of print]
  • OBJECTIVE: 21-Hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired cortisol synthesis. This study aimed to design a reliable and rational approach for identifying mutations in the CYP21A2 gene a
  • PMID 24503005
  • No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening.
  • Hird BE1, Tetlow L, Tobi S, Patel L, Clayton PE.Author information 1Department of Biochemistry, Central Manchester University Hospitals NHS Foundation Trust, UK.AbstractOBJECTIVE: Congenital adrenal hyperplasia (CAH) is not currently included in the UK newborn screening programme. We investigated the hypothesis that, owing to non-specificity of symptoms, a proportion of males affected by salt-wasting (SW) CAH have died in infancy without being diagnosed.
  • Archives of disease in childhood.Arch Dis Child.2014 Feb;99(2):158-64. doi: 10.1136/archdischild-2013-304473. Epub 2013 Nov 13.
  • OBJECTIVE: Congenital adrenal hyperplasia (CAH) is not currently included in the UK newborn screening programme. We investigated the hypothesis that, owing to non-specificity of symptoms, a proportion of males affected by salt-wasting (SW) CAH have died in infancy without being diagnosed.DESIGN: Sto
  • PMID 24225272

和文文献

  • Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency that Developed into Symptomatic Severe Hyponatremia
  • Goto Sawako,Ookawara Susumu,Takase Kaoru,Goto Mizue,Nakayama Takahiro,Oyama Yuhta,Tabei Kaoru
  • Internal Medicine 54(10), 1273-1276, 2015
  • … A 78-year-old woman diagnosed with non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency had been under glucocorticoid replacement therapy since the age of 17 years. … Her hyponatremia was likely caused by extra-renal sodium loss and impaired water excretion induced by an increase of serum vasopressin due to volume depletion and glucocorticoid deficiency. …
  • NAID 130005069780
  • Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children
  • Kashimada Kenichi,Ishii Tomohiro,Nagasaki Keisuke,Ono Makoto,Tajima Toshihiro,Yokota Ichiro,Hasegawa Yukihiro
  • Endocrine Journal 62(3), 277-282, 2015
  • … Non-classical 21-hydroxylase deficiency (NC21-OHD) is a mild form of 21-hydroxylase deficiency lacking apparent symptoms of androgen excess at birth. … Most NC21-OHD cases are diagnosed after the onset of puberty, while a substantial number of patients are not diagnosed during childhood. …
  • NAID 130005060860
  • Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children
  • Kashimada Kenichi,Ishii Tomohiro,Nagasaki Keisuke,Ono Makoto,Tajima Toshihiro,Yokota Ichiro,Hasegawa Yukihiro
  • Endocrine Journal advpub(0), 2015
  • … Non-classical 21-hydroxylase deficiency (NC21-OHD) is a mild form of 21-hydroxylase deficiency lacking apparent symptoms of androgen excess at birth. … Most NC21-OHD cases are diagnosed after the onset of puberty, while a substantial number of patients are not diagnosed during childhood. …
  • NAID 130004770492

関連リンク

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 ...
The classical salt wasting form of 21-hydroxylase-deficient is a severe form of 21-hydroxylase deficiency. People with this condition have no 21-hydroxylase function.Within the first week of life newborns may have life ...

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★リンクテーブル★
リンク元21-ヒドロキシラーゼ欠損症
拡張検索nonclassic 21-hydroxylase deficiency」「classic 21-hydroxylase deficiency
関連記事deficiency」「hydroxylase

21-ヒドロキシラーゼ欠損症」

  [★]

21-hydroxylase deficiency, 21-hydroxylase deficiency in the adrenal
21水酸化酵素欠損症 21-水酸化酵素欠損症21-ハイドロキシラーゼ欠損症21-hydroxylase欠損症
21-ヒドロキシラーゼ、P450c2
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nonclassic 21-hydroxylase deficiency」

  [★] 非古典的21-水酸化酵素欠損症

classic 21-hydroxylase deficiency」

  [★] 古典的21-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
absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

PrepTutorEJDIC   license prepejdic

「〈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」


hydroxylase」

  [★] ヒドロキシラーゼ




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