FINGERSTICK 17 OH PROGESTERONE MONITORING OF CONGENITAL ADRENAL HYPERPLASIA

先天性肾上腺增生症的指尖 17 OH 孕酮监测

• 批准号: 6295042
• 负责人: DAVID R REPASKE
• 金额: $ 3.1万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6295042
• 关键词: biomarker; blood chemistry; clinical research; congenital adrenal hyperplasia; endocrine disorder chemotherapy; enzyme therapy; fingers; glucocorticoids; hormone regulation /control mechanism; hormone therapy; human subject; human therapy evaluation; pregnane compound; progesterone; urinalysis

Congenital adrenal hyperplasia (CAH) is caused by an enzyme defect in the adrenal steroid biosynthetic pathway. This disease is managed primarily by glucocorticoid replacement therapy, but the appropriate therapeutic range is narrow and changes over time. Under-treatment leads to excess adrenal androgen production with consequent adverse effects, including hirsutism, virilization, early puberty, and short stature. Over-treatment causes direct growth suppression and appetite stimulation with consequent adverse effects of short stature and obesity. The hypothesis for this study is that fingerstick bloodspot 17-OH-P can be a useful assessment of adequacy of therapy for CAH. This study will involve hourly measurement of the venous blood 17-OH-P of patients with CAH on their usual dose of replacement adrenal steroids. The patients will be assessed objectively by urinary pregnanetriol measurements with substantiation by history, physical exam, and other adrenal hormone assays to determine whether each patient is being optimally treated or over-treated or under-treated.

先天性肾上腺增生（CAH）是由肾上腺类固醇生物合成途径中的酶缺陷引起的。 这种疾病主要通过糖皮质激素替代疗法来治疗，但适当的治疗范围很窄并且随着时间的推移而变化。 治疗不足会导致肾上腺雄激素产生过多，从而产生不良反应，包括多毛症、男性化、青春期提前和身材矮小。 过度治疗会导致直接生长抑制和食欲刺激，从而产生身材矮小和肥胖的不良影响。本研究的假设是指尖血斑 17-OH-P 可以有效评估 CAH 治疗的充分性。 这项研究将涉及每小时测量接受常规剂量替代肾上腺类固醇的 CAH 患者的静脉血 17-OH-P。 将通过尿孕三醇测量对患者进行客观评估，并通过病史、体格检查和其他肾上腺激素测定证实，以确定每位患者是否得到了最佳治疗、过度治疗或治疗不足。