An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report

Ishinoda, Yuki; Uto, Asuka; Yamada, Y.; Okazaki, Maki; Asada, Hidetomo; Wakamatsu, Seina; Kurihara, Isao; Shibata, Hironori; Ishii, Tomohiro; Hasegawa, Tomonobu; Kumagai, Hiroo; Kasuga, Akiyoshi

doi:10.1186/s12902-022-01216-y

Cited by 3 publications

(2 citation statements)

References 11 publications

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“…Patients with 17OHD usually present with low aldosterone levels secondary to high DOC, which suppresses the plasma renin activity [8]. However, aldosterone levels were not low in all cases and some 17OHD cases may have been misdiagnosed as primary aldosteronism (PA) cases [9]. DOC excess also accounts for kaluresis and hypokalemia despite suppressed renin and aldosterone production.…”

Section: Discussionmentioning

confidence: 99%

A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping

Elabd,

Almohareb,

AlJaroudi

et al. 2024

Cureus

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Congenital adrenal hyperplasia (CAH) consists of variable disorders of sex determination and differentiation. 17α-hydroxylase deficiency (17OHD) is an uncommon form of those disorders, which is typically characterized by hypertension, hypokalemia, failure of puberty, and ambiguous genitalia. The 17αhydroxylase enzyme is encoded by the CYP17A1 gene and it is required for the synthesis of cortisol and sex steroids. The affected females with 17OHD usually present with primary amenorrhea and delayed puberty, which are associated with hypertension and hypokalemia while male patients might show female external genitalia, pseudohermaphroditism, or variable degrees of ambiguous genitalia with intra-abdominal testes in addition to hypertension and hypokalemia as well.We present two Saudi siblings (19 and 16 years old) who were diagnosed with the rare CAH subtype of 17OHD after presenting with long-standing hypertension, refractory hypokalemia, and failure of puberty. It is interesting that both siblings had biochemical primary adrenal insufficiency; however, both patients did not clinically present with an acute adrenal crisis, which is likely due to the effect of increased levels of deoxycorticosterone. Additionally, although both patients have similar phenotypes and clinical presentations, they have different karyotypes. This again highlights the variability of the manifestations that can result from 17OHD even with an identical mutation in the same family. Both patients were treated successfully with dexamethasone, which has led to the normalization of hypertension, resolution of hypokalemia, and discontinuation of anti-hypertensive medications and potassium supplements after several years of treatment. However, the entire management is quite challenging and requires a multidisciplinary approach regarding difficult issues such as gender identity and assignment and fertility issues in addition to a life-long follow-up.

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Section: Discussionmentioning

confidence: 99%

A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping

Elabd,

Almohareb,

AlJaroudi

et al. 2024

Cureus

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“…Patients with 17OHD typically present hypoaldosteronism. However, some patients present with hyperaldosteronism and primary aldosteronism is suspected to be the cause of hypertension (8). The patient in this case was initially suspected to have primary aldosteronism.…”

Section: Introductionmentioning

confidence: 86%

A Case of 17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism

Ikeya,

Yamashita,

Kakizawa

et al. 2024

Intern. Med.

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17α-hydroxylase deficiency is a type of congenital adrenocortical hyperplasia that is typically diagnosed in childhood or adolescence. It manifests as hypertension with gonadal dysfunction as the primary symptom. We herein report 17α-hydroxylase/17,20-lyase deficiency (17OHD) diagnosed at the age of 45 years. The patient presented with hypertension, irregular menstruation, and hyperaldosteronism. The clinical manifestations of 17OHD vary based on the specific variant pattern of CYP17A1. In this case, the variant was c.157_159 TCC del p. Phe53del, which has been frequently reported in Japan. The enzymatic deficiency due to this variant is partial, leading to a delay in making a correct diagnosis.

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Renal Hypokalemia: An Endocrine Perspective

Culver,

Suleman,

Kavuru

et al. 2024

The Journal of Clinical Endocrinology &Amp; Metabolism

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The majority of disorders which cause renal potassium wasting present with abnormalities in adrenal hormone secretion. While these findings frequently lead patients to seek endocrine evaluation, clinicians often struggle to accurately diagnose these conditions, delaying treatment and adversely impacting patient care. At the same time, growing insight into the genetic and molecular basis of these disorders continues to improve their diagnosis and management. In this review we outline a practical integrated approach to the evaluation of renal hypokalemia syndromes that are seen in endocrine practice while highlighting recent advances in understanding of the genetics and pathophysiology behind them.

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An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report

Cited by 3 publications

References 11 publications

A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping

A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping

A Case of 17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism

Renal Hypokalemia: An Endocrine Perspective

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