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case_report·endocrinology, cardiology, internal medicine, pediatrics, family medicine·PMC10036490

Severe hypertension caused by 17α-hydroxylase deficiency: A case report

Heliyon · 5 authors, 1 centre

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TL;DR

This case report describes a patient with 17α-hydroxylase deficiency (17OHD) who was misdiagnosed for over 20 years.

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This is a case report of a patient with 17α-hydroxylase deficiency (17OHD), a rare autosomal recessive disorder. The patient, who had a 46,XY karyotype, presented with severe hypertension, hypokalemia, sexual infantilism, and delayed bone age, and was misdiagnosed for over 20 years. Genetic testing revealed a homozygous CYP17A1 gene mutation (c.1319G > A, p.Arg440His). Treatment with Nifedipine Sustained Release Tablets 30 mg once daily controlled her blood pressure to approximately 145/95 mmHg.

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case_report

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endocrinology

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100% · A

ORIGINAL PAPER

PMC10036490

Severe hypertension caused by 17α-hydroxylase deficiency: A case report

Heliyon

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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.

CITATION EXPORT

YaJing Zhao, ChengYu Wang, ZiHong Guo et al.. Severe hypertension caused by 17α-hydroxylase deficiency: A case report. Heliyon. (2023). https://doi.org/10.1016/j.heliyon.2023.e14062

AUTHORS

5 · 1 CENTRES

YaJing Zhao, ChengYu Wang, ZiHong Guo, ChunXiu Yi, Wen Zhang

Fuwai Cardiovascular Hospital of Yunnan Province, Kunming, Yunnan, China