ArticleHeliyon2023
Severe hypertension caused by 17α-hydroxylase deficiency: A case report.
Article in Heliyon, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
3 citing papers in PubMed.
- Multi-biomarker models based on the androgen backdoor pathway for diagnosing 17α-hydroxylase/17,20-lyase deficiency.Endocrine · 2026Article
- Licorice Toxicity Presenting As Refractory Hypokalemia and Hypertension in an Elderly Patient.Cureus · 2024Article
- Genetics of Hypertension: From Monogenic Analysis to GETomics.Journal of cardiovascular development and disease · 2024Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: 17α-hydroxylase deficiency (17OHD) is an autosomal recessive genetic disease characterized by low renin hypertension, abnormal sexual development, and reduced androgen levels. The morbidity rate of 17OHD is less than 1/10,000, and a lack of knowledge of this condition may lead to misdiagnosis and delayed treatment. Case presentation: This is a case report of a patient suffering from hypertension who was diagnosed with 17OHD. The patient was misdiagnosed for more than 20 years. The patient presented with hypertension, hypokalemia, sexual infantilism, and delayed bone age. The patient had a 46, XY karyotype and a homozygous mutation of the CYP17A1 gene. The mutation site was c.1319G > A (p.Arg440His). After she took Nifedipine Sustained Release Tablets 30 mg once a day in the morning, her blood pressure dropped and is currently under control at about 145/95 mmHg. Conclusions: With clinicians' increasing awareness of 17OHD, effective treatment based on early diagnosis should correct hypogonadism and avoid the cardiovascular and cerebrovascular complications of hypertension.
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Registered trials
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