ArticleOxford medical case reports2020
Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report.
Article in Oxford medical case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping.Cureus · 2024Article
- Case report: Management challenges of late diagnosed 17-alpha hydroxylase deficiency.Clinical case reports · 2023Article
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
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