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

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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References

1.

Bestas A, Bolu S, Unal E, Aktar Karakaya A, Eroz R, Tekin M . A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency. Endocrine. 2021; 75(3):927-933. DOI: 10.1007/s12020-021-02914-8. View

2.

El-Maouche D, Arlt W, Merke D . Congenital adrenal hyperplasia. Lancet. 2017; 390(10108):2194-2210. DOI: 10.1016/S0140-6736(17)31431-9. View

3.

Ruiz-Babot G, Hadjidemetriou I, King P, Guasti L . New directions for the treatment of adrenal insufficiency. Front Endocrinol (Lausanne). 2015; 6:70. PMC: 4422080. DOI: 10.3389/fendo.2015.00070. View

4.

Costa-Santos M, Kater C, Auchus R . Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab. 2004; 89(1):49-60. DOI: 10.1210/jc.2003-031021. View

5.

New M . Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency. J Clin Invest. 1970; 49(10):1930-41. PMC: 322683. DOI: 10.1172/JCI106412. View

6.

Zhao Z, Lu L, Wang O, Wu X, Sun B, Zhang W . High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency. Endocrine. 2022; 76(1):151-161. DOI: 10.1007/s12020-021-02966-w. View

7.

Xia Y, Shi P, Xia J, Zhang H, Xu L, Kong X . Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency. Steroids. 2021; 173:108873. DOI: 10.1016/j.steroids.2021.108873. View

8.

Miller W . MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis. Eur J Endocrinol. 2018; 179(3):R125-R141. DOI: 10.1530/EJE-18-0279. View

9.

Bee Y, Manju C, Papari-Zareei M, Auchus R . Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency. Gynecol Endocrinol. 2011; 28(4):322-5. DOI: 10.3109/09513590.2011.631625. View

10.

Balyura M, Gelfgat E, Ehrhart-Bornstein M, Ludwig B, Gendler Z, Barkai U . Transplantation of bovine adrenocortical cells encapsulated in alginate. Proc Natl Acad Sci U S A. 2015; 112(8):2527-32. PMC: 4345555. DOI: 10.1073/pnas.1500242112. View

11.

Xu Y, Jiang S, Yan Z, Niu Y, Du W, Liu B . Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency. J Clin Endocrinol Metab. 2022; 107(6):e2610-e2618. DOI: 10.1210/clinem/dgac029. View

Severe Hypertension Caused by 17α-hydroxylase Deficiency: A Case Report