| Autor: |
Eric D. Frontera, DO, Joshua J. Brown, BS, Hagop Ghareebian, MBCHB, Cary Mariash, MD |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
AACE Clinical Case Reports, Vol 8, Iss 6, Pp 271-274 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2376-0605 |
| DOI: |
10.1016/j.aace.2022.10.003 |
| Popis: |
Background/Objective: Nonclassic congenital adrenal hyperplasia (NCCAH) may be overlooked or mistaken for polycystic ovarian syndrome. Unlike congenital adrenal hyperplasia (CAH), the enzymatic activities of 21-hydroxylase or 11β-hydroxylase in NCCAH are not completely lost. In this case, NCCAH presented in a patient with CYP21A2 and CYP11B1 heterozygous mutations, one of which is a variant of unknown significance in CYP11B1. Case Report: A 30-year-old woman presented with a chief complaint of irregular menses and hirsutism. Previous medical history was significant for a prolactin level of 34.7 ng/mL (reference range, 2.0-23.0 ng/mL), a total serum testosterone level of 77 ng/dL (reference range, 25-125 ng/dL, not sex-specific), and a 2-mm × 3-mm pituitary lesion. An adrenocorticotrophic hormone stimulation test increased the 17-hydroxyprogesterone level from 444 ng/dL at baseline to 837 ng/dL at 60 minutes (baseline female reference range and stimulated reference ranges are 10-300 ng/dL and |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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