リポイド過形成
WordNet
- of or pertaining to the adrenal glands or their secretions
- near the kidneys
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- abnormal increase in number of cells
PrepTutorEJDIC
- 副腎(じん)の
- (病気・身体的欠陥など)生まれつきの,先天的な
UpToDate Contents
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English Journal
- Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.
- Tsai SL1, Green J, Metherell LA, Curtis F, Fernandez B, Healey A, Curtis J.
- Hormone research in paediatrics.Horm Res Paediatr.2015 Dec 10. [Epub ahead of print]
- BACKGROUND/AIMS: Primary adrenal insufficiency (AI) is an important cause of morbidity in children. Our objectives were: (1) to describe the clinical presentation of children with new-onset primary AI, and (2) to identify monogenic causes of primary AI in children.METHODS: Chart review and mutation
- PMID 26650942
- [Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].
- Xie T1, Zheng JP, Huang YL, Fan C, Wu DY, Tan MY, Li XZ, Cheng J, Liu L.
- Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.Zhongguo Dang Dai Er Ke Za Zhi.2015 May;17(5):472-6.
- This article reported the clinical manifestations, steroid profiles and adrenal ultrasound findings in two unrelated Chinese girls with lipoid congenital adrenal hyperplasia (LCAH). Direct DNA sequencing and restriction fragment length polymorphism (RFLP) analysis were used to identify the mutations
- PMID 26014698
- Genetic forms of adrenal insufficiency.
- Brett EM, Auchus RJ.
- Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.Endocr Pract.2015 Apr;21(4):395-9. doi: 10.4158/EP14503.RA. Epub 2015 Feb 9.
- OBJECTIVE: The American Association of Clinical Endocrinologists Adrenal Scientific Committee has developed a series of articles to update members on the genetics of adrenal diseases.METHODS: Case presentation, discussion of literature, table, and bullet point conclusions.RESULTS: The genetic mutati
- PMID 25667374
Japanese Journal
- 生殖補助医療、性ホルモン補充を行わず、妊娠・出産に至った先天性リポイド副腎過形成の1 例
- リポイド副腎過形成(StAR異常症) (特集 遺伝性副腎疾患の現状)
- A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia
Related Links
- 1. Eur J Pediatr. 2012 May;171(5):787-93. doi: 10.1007/s00431-011-1620-5. Epub 2011 Nov 15. Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the ...
- Congenital adrenal hyperplasia (CAH) refers to several disorders characterized by genetic defects in the proteins and enzymes involved in cortisol biosynthesis (). The decrease in cortisol production releases the feedback inhibition of ...
★リンクテーブル★
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- 英
- congenital adrenal lipoid hyperplasia
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- 関
- congenital、congenitally
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- 関
- adrenal gland、suprarenal
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リポ、脂肪
- 関
- adipose、fat、lipid
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