The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis
| Autor: | Piotr Miśkiewicz, Ewa Maria Małunowicz, Alina Kurylowicz, Urszula Ambroziak, Anna Kępczyńska-Nyk, Anna Wojcicka, Magdalena Macech |
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| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Adult medicine.medical_specialty Adolescent Endocrinology Diabetes and Metabolism Urinary system 030209 endocrinology & metabolism Adrenocorticotropic hormone Sensitivity and Specificity 03 medical and health sciences Basal (phylogenetics) Young Adult 0302 clinical medicine Endocrinology Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Adrenocorticotropic Hormone Reference Values Internal medicine Medicine Humans Congenital adrenal hyperplasia Genetic Testing medicine.diagnostic_test Adrenal Hyperplasia Congenital business.industry 17-alpha-Hydroxyprogesterone Hyperandrogenism ACTH stimulation test medicine.disease 030104 developmental biology Mutation Hydroxyprogesterone Female Steroids Adrenal Cortex Function Tests Steroid 21-Hydroxylase business |
| Zdroj: | Clinical endocrinology. 84(1) |
| ISSN: | 1365-2265 |
| Popis: | OBJECTIVE As nonclassic congenital adrenal hyperplasia (NCCAH) needs to be taken into account in women with hyperandrogenism, we aimed to assess whether the recommended level of poststimulated 17OHP ≥30 nmol/l confirms NCCAH. PATIENTS AND METHODS Forty, consecutive women with biochemical and/or clinical hyperandrogenism (aged 25·4, 18-38) suspected of having NCCAH were recruited to the study. In patients with 17OHP level between 5·1 and 29·9 nmol/l an ACTH stimulation test was performed. In patients with basal or poststimulated 17OHP ≥30 nmol/l, twenty-four-hour urinary steroid profile (USP) analysis was performed and CYP21A2 mutation was assessed. In selected patients with poststimulated 17OHP |
| Databáze: | OpenAIRE |
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