The Prevalence of 21-Hydroxylase Deficiency in Adrenal Incidentalomas - Hormonal and Mutation Screening

Wagnerova, H; Lazúrová, Ivica; Habalová, Viera; Dudasova, Daniela; Vrzgula, A.

doi:10.1055/s-2007-1004551

Cited by 10 publications

(6 citation statements)

References 12 publications

(15 reference statements)

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“…The present study did not disclose mutation carriers in 3 out of 30 subjects with exaggerated response to ACTH stimulation. The same situation has been described previously [20,23]. The simplest explanation of this fact is the presence of a novel mutation or just a different one than those analyzed by the investigators.…”

supporting

confidence: 67%

“…Contrary results were presented by Wagnerova et al who did not reveal any mutation of CYP21A2 gene among 40 Slovakian patients with various types of nonfunctional incidentally found adrenocortical tumors. All the most common NC-CAH mutations were taken into consideration in this study [23]. Kjellman et al have drawn the same conclusion in the research assessing 27 Swedish patients enrolled regardless of the tumors' functionality or expected histopathological character.…”

mentioning

confidence: 55%

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Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas

Kiedrowicz

Bińczak-Kuleta

Lubikowski³

et al. 2015

Horm Metab Res

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Adrenal tumors, discovered incidentally in approximately 4.5% of imaging procedures, are known as adrenal incidentalomas. Nonclassic congenital adrenal hyperplasia, mild form of 21-hydroxylase deficiency, may lead to the development of adrenocortical tumors. The aim of the study was to evaluate prevalence of the most common nonclassic mutations of CYP21A2 gene in patients with adrenal incidentalomas and investigate possible relationship with clinical outcome. One hundred adult patients with such lesions were enrolled. Clinical, imaging and biochemical evaluation were performed to rule out hormonal overproduction or potential malignancy. All subjects and a control group of 100 neonates were genotyped for P30L, P453S, and V281L mutations of CYP21A2 gene using direct sequencing. Clinical and imaging features as well as hormone levels were analyzed. Heterozygous CYP21A2 gene mutations were detected in 8 subjects but not in the neonates. Thus, the risk of carrying mutant allele was significantly higher in subjects with adrenal tumors (OR=8.7; 95% CI=2.23-389.56; p=0.003). Mean concentrations of renin, basal, and stimulated 17-hydroxyprogesterone were higher and ACTH was lower in the carriers than in the remaining subjects. Furthermore, the carriers had higher incidence of hypertension (100 vs. 52.1%, p=0.008) and diabetes (50 vs. 11.9%, p=0.003). ACTH-stimulated 17-hydroxyprogesterone levels varied widely among the carriers. In summary, prevalence of P30L, P453S, and V281L mutations of CYP21A2 gene is increased in patients with adrenocortical tumors. In these subjects, carrying the analyzed mutant alleles may increase the risk of diabetes and hypertension. ACTH-stimulation test does not satisfactorily predict presence of heterozygous CYP21A2 mutations in patients with adrenal tumors.

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supporting

confidence: 67%

mentioning

confidence: 55%

Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas

Kiedrowicz

Bińczak-Kuleta

Lubikowski³

et al. 2015

Horm Metab Res

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“…Thus we suppose in this and in a recent study a partial blockade of 21 hydroxylase inside of the tumor [23,25].…”

Section: Resultsmentioning

confidence: 62%

“…Routine evaluation of an adrenal androgen is not necessary [4,23]. Only one patient in our study had DHEAS overproduction with the histological finding of an adrenal adenoma with foci of myelolipoma.…”

Section: Resultsmentioning

confidence: 79%

Hormonal and metabolic evaluation of adrenal incidentalomas

Wagnerova¹,

Dudasova²,

Lazúrová³

2009

neo

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The biochemical and hormonal data in patients with adrenal incidentalomas were evaluated to compare the differences between adrenal adenomas and other benign lesions and to find the relationship between metabolic parameters and adrenal hormones. Ninety two patients (29men, age 20-90 years) with incidentally discovered unilateral or bilateral adrenal masses detected on CT were included in this study for the reasons others than adrenal pathology. Glycemia, cholesterolemia, triglyceridemia, hormonal evaluation including plasma ACTH, plasma aldosterone, plasma renin acitivity, overnight dexametasone test, ACTH test, free plasma metanephrines, urinary catecholamines were determined. In the group of patients with adrenal masses the prevalence of arterial hypertension was three fold higher, the prevalence of DM was approximately five fold higher and the prevalence of the overweight and obesity two fold higher than is reported in the general population. The most frequent adrenal masses were nonfunctional masses, the occurence of functional lesions was as follows: steroid enzymopathies (an exaggerated response of 17-OHP indicating a possible 21-hydroxylase deficiency), subclinical Cushing syndrome, primary aldosteronism and pheochromocytoma (5%, 2%, 2% and 1% respectively). There were no significant differences in evaluated data between patients with adenomas and hyperplasia and also no significant difference in evaluated data between lesions smaller than 3 cm and lesions greater than 3 cm. We did not find any correlations between plasma cortisol and lipid values. In this study we confirmed a higher prevalence of symptoms characteristic for different metabolic syndromes in these patients with adrenal incidentalomas, which indicate systematic screening for the metabolic syndrome including evaluation of the insuline resistance in this patients.

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“…Many cases of CAH with adrenal incidentaloma have been reported, but mainly in cases of 21-hydroxylase deficiency. [13,14] Only a few case reports of 17OHD combined with adrenal incidentalomas have been described in the literature. The possible cause of adrenal incidentalomas is currently thought to be related to the high concentration of 17OHP and ACTH hypersecretion for the stimulation of adrenal tissue.…”

Section: Discussionmentioning

confidence: 99%

Hypertension, hypokalemia, and left adrenal tumor mimicking primary aldosteronism in a patient with 17α-hydroxylase deficiency

Huang

Hwang

2019

CRIM

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17α-hydroxylase deficiency (17OHD) is a rare disorder of secondary hypertension caused by congenital adrenal hyperplasia. In addition, co-occurrence of an adrenal tumor with 17OHD is extremely rare and easily misdiagnosed. A 33-year-old female with sicca syndrome, persistent hypertension, hypokalemia, and a left adrenal tumor was referred for confirmation of primary aldosteronism. However, the absence of secondary sexual characteristics, persistent growth beyond puberty, and laboratory data of low plasma renin activity, high aldosterone, low cortisol, low sex hormones, elevated adrenocorticotropic hormone, elevated luteinizing hormone, elevated follicle-stimulating hormone, and most importantly, decreased 17-hydroxypregnenolone, supported a diagnosis of 17OHD. We sequenced the CYP17A1 gene of the patient and her parents, which demonstrated genetic defects (D487-S,488-F489 deletion and Y329K418X). 17OHD was diagnosed. The left adrenal tumor was assessed, and a non-functional adrenal incidentaloma was confirmed; NP-59 adrenal cortical scintigraphy and adrenal venous sampling showed no functional activity and non-lateralization. Hormone replacements with estrogen, spironolactone, and prednisolone were given. The patient became more feminized and confident, and her hypertension was controlled. Early diagnosis and treatment of 17OHD not only can prevent delay development of secondary sexual characteristics but also help the patient maintain mental health and improve their quality of life. In addition, the concomitant presence of a left adrenal tumor makes misdiagnosis of a functional adenoma more likely, possibly causing unnecessary surgery and delay inappropriate treatment.

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The Prevalence of 21-Hydroxylase Deficiency in Adrenal Incidentalomas - Hormonal and Mutation Screening

Cited by 10 publications

References 12 publications

Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas

Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas

Hormonal and metabolic evaluation of adrenal incidentalomas

Hypertension, hypokalemia, and left adrenal tumor mimicking primary aldosteronism in a patient with 17α-hydroxylase deficiency

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