Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report
| Autor: | Ahmad Ramadan, Rasha Ammar |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
omcrep/700
Metabolic alkalosis Physiology Case Report 030209 endocrinology & metabolism Adrenocorticotropic hormone Microbiology omcrep/200 03 medical and health sciences omcrep/2500 0302 clinical medicine medicine Medical history Congenital adrenal hyperplasia Hydrocortisone 030219 obstetrics & reproductive medicine business.industry Respiratory infection medicine.disease Hypokalemia Infectious Diseases CYP17A1 Parasitology medicine.symptom AcademicSubjects/MED00010 business medicine.drug |
| Zdroj: | Oxford Medical Case Reports |
| ISSN: | 2053-8855 |
| DOI: | 10.1093/omcr/omaa108 |
| Popis: | A 17 alpha-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH). In this article we discuss a case of 8-year-old girl presented with upper respiratory infection symptoms and a history of hospital admission of fatigue and dehydration. She was incidentally found to have hypertension and hypokalemia. After an endocrine workup her biochemical tests showed: metabolic alkalosis, low levels of cortisol, high levels of adrenocorticotropic hormone (ACTH) and follicle-stimulating hormone (FSH) with normal female phenotype and (46,XY) karyotype. These findings led to the diagnosis of 17OHD confirmed by regression of hypertension and hypokalemia with hydrocortisone prescription. This case shows the importance of vital signs measurement, medical history and commitment to a systematic approach. |
| Databáze: | OpenAIRE |
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