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Updated: Sep 9, 2025

A Novel Method: Super-selective Adrenal Venous Sampling
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非-21-α-ヒドロキシラーゼ欠乏性先天性副腎増殖におけるフェノタイプのスペクトルと診断上の課題:第三次医療センターからの症例シリーズ

Anand Sheya1, Nayana Tara Vasireddy1, Shriraam Mahadevan1

  • 1Department of Endocrinology and Metabolism, Sri Ramachandra Institute of Higher Education and Research, Chennai, India.

Endocrine regulations
|August 29, 2025
PubMed
まとめ

非-21-ヒドロキシラーゼ欠乏症 (非-21-OHD) の先天性腎上腺増殖 (CAH) は,さまざまな表型を呈し,適切なタイミングで特定するための特定の診断マーカーを必要とします. 21-OHD以外のCAHの早期診断は重篤な合併症を予防するために不可欠です.

キーワード:
生まれながらの副腎増殖遺伝的疾患非-21-OHD CAH青年の高血圧

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