Congenital adrenal hyperplasia and hypertension

Tosun, Büşra Gürpınar; Güran, Tülay

doi:10.1016/b978-0-323-96120-2.00015-7

Cited by 3 publications

(5 citation statements)

References 92 publications

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“…Molecular testing for the presence of CYP17A1 mutations confirms the diagnosis [32]. MR antagonists help alleviate the hypertension [32].…”

Section: Discussionmentioning

confidence: 93%

“…Hypokalemia and low-renin hypertension are secondary to increased sodium reabsorption [17,31]. Hypertension occurs in at least one-third of cases and is of varying severity [32]. Genetic testing confirms the presence of a mutation in the CYP11B1 gene, but the condition is suspected with elevated basal 11-deoxycortisol [21].…”

Section: Discussionmentioning

confidence: 99%

“…Genetic testing confirms the presence of a mutation in the CYP11B1 gene, but the condition is suspected with elevated basal 11-deoxycortisol [21]. Treatment of hypertension occurs with optimal glucocorticoid replacement; however, MR antagonists such as spironolactone are used alone or with a calcium channel blocker (CCB) when blood pressure control remains inadequate [32].…”

Section: Discussionmentioning

confidence: 99%

“…The accumulated deoxycorticosterone results in excess mineralocorticoid activity with resultant hypokalemia and hypertension [23]. Molecular testing for the presence of CYP17A1 mutations confirms the diagnosis [32]. MR antagonists help alleviate the hypertension [32].…”

Section: Discussionmentioning

confidence: 99%

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Low renin forms of monogenic hypertension: review of the evidence

Okorafor,

Okorafor

2024

J CLIN MED KAZ

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Background: Monogenic hypertension syndromes result from a single genetic mutation and present with severe, refractory hypertension, distinct laboratory abnormalities, and a positive family history. These syndromes are often unrecognized or misdiagnosed as essential hypertension, thus preventing proper treatment. The rise of molecular genetics has brought these conditions to the limelight, and physicians must be kept abreast of the latest in this field. This paper aims to educate doctors to recognize and institute appropriate management early to prevent end-organ damage. Discussion: These syndromes all affect sodium transport in the distal nephron of the kidneys. However, they are divided based on the location of the primary disorder, i.e., the adrenal glands or the distal nephron and discussed in that manner. Tables provide an overview of the different syndromes and provide essential information in a snapshot. Conclusion: The widespread availability of genetic testing facilities will aid in the earlier diagnosis of these conditions to prevent morbidity.

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“…Molecular testing for the presence of CYP17A1 mutations confirms the diagnosis [32]. MR antagonists help alleviate the hypertension [32].…”

Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Low renin forms of monogenic hypertension: review of the evidence

Okorafor,

Okorafor

2024

J CLIN MED KAZ

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“…Table 6 provides an overview of various other adrenal causes of endocrine hypertension with special attention to inheritance, genetic mutation, clinical features, and treatment. [54][55][56][57][58][59] Chronic ingestion of licorice can cause apparent mineralocorticoid excess syndrome.…”

Section: Other Endocrine Causes Of Hypertensionmentioning

confidence: 99%

Endocrine Hypertension: The Urgent Need for Greater Global Awareness

Fernandez,

Nagendra,

Alkhalifah

et al. 2023

touchREVIEWS in Endocrinology

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Hypertension affects about 1.28 billion adults globally, and significantly increases the risk of chronic morbidity and mortality among sufferers. About 15% of these individuals have secondary hypertension, the majority of whom have dysfunction of one or more endocrine systems as the cause of hypertension. Although adrenal disorders are often identified as the cause of endocrine hypertension, extra-adrenal disease and pituitary disorders also can cause the disease. Timely diagnosis is of paramount importance, because of the potential for a surgical cure or optimal disease control with pharmacotherapy to prevent hypertensive complications. Even with its relatively high prevalence compared with many other chronic illnesses, the diagnosis of endocrine hypertension is often delayed or never made because of poor awareness about the disease among physicians. This review attempts to provide an overview of the disease, with some practical aspects of diagnosis and management of a few of the important disorders causing endocrine hypertension.

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Rare forms of congenital adrenal hyperplasia

Gurpinar Tosun,

Guran

2023

Clinical Endocrinology

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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders due to pathogenic variants in genes encoding enzymes and cofactors involved in adrenal steroidogenesis. Although 21‐hydroxylase, 11β‐hydroxylase, 3β‐hydroxysteroid dehydrogenase type 2, 17α‐hydroxylase/17,20‐lyase, P450 oxidoreductase, steroidogenic acute regulatory protein, cholesterol side‐chain cleavage enzyme deficiencies are considered within the definition of CAH, the term ‘CAH’ is often used to refer to ‘21‐hydroxylase deficiency (21OHD)’ since 21OHD accounts for approximately 95% of CAH in most populations. The prevalence of the rare forms of CAH varies according to ethnicity and geographical location. In most cases, the biochemical fingerprint of impaired steroidogenesis points to the specific subtypes of CAH, and genetic testing is usually required to confirm the diagnosis. Despite there are significant variations in clinical characteristics and management, most data about the rare CAH forms are extrapolated from 21OHD. This review article aims to collate the currently available data about the diagnosis and the management of rare forms of CAH.

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Congenital adrenal hyperplasia and hypertension

Cited by 3 publications

References 92 publications

Low renin forms of monogenic hypertension: review of the evidence

Low renin forms of monogenic hypertension: review of the evidence

Endocrine Hypertension: The Urgent Need for Greater Global Awareness

Rare forms of congenital adrenal hyperplasia

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