AMBIGUOUS DIAGNOSIS: ADRENAL SUPPRESSION IN CONGENITAL ADRENAL HYPERPLASIA (CAH). † 497

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Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

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Diagnosis and prevalence of Congenital Adrenal Hyperplasia (CAH) in Austrian children screened or not screened for CAH

Prevalence of Congenital Adrenal Hyperplasia (CAH) is not exactly known in the Austria; a number of patients with CAH might not be diagnosed, especially males. CAH is in about 95 % of the cases due to a defect in the 21hydroxylation (‘classical CAH’). Newborn screening for CAH, based on the measurement of 17a-hydroxyprogesterone (17-OHP) was shown to be efficient for diagnosis, and is part of t...

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Congenital adrenal hyperplasia: diagnosis, evaluation, and management.

1. Describe the pathophysiology of congenital adrenal hyperplasia (CAH). 2. Characterize the signs and symptoms of CAH. 3. Describe the appropriate laboratory evaluation of CAH. 4. Know that CAH can be diagnosed prenatally. 5. Recognize adrenal insufficiency by laboratory and clinical evaluation. 6. Anticipate and plan treatment for both acute adrenal crisis and long-term therapy for a patient ...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 1996

ISSN: 0031-3998,1530-0447

DOI: 10.1203/00006450-199604001-00517