The role of 21-hydroxylase in the pathogenesis of adrenal masses: Review of the literature and focus on our own experience

Barzon, Luisa; Maffei, Pietro; Sonino, Nicoletta; Pilon, Catia; Baldazzi, Lilia; Balsamo, Antonio; Maschio, O Del; Masi, Giulia; Trevisan, Marta; Pacenti, Monia; Fallo, Francesco

doi:10.1007/bf03346358

Cited by 18 publications

(8 citation statements)

References 76 publications

(64 reference statements)

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“…Consistent with these data, the heterozygote carriers of loss-of-function mutations of CYP21A2 occurred more frequently in a study involving 50 NFAI subjects [15]. However, the role played by CYP21A2 in the epidemiology and pathogenesis of NFAI is controversial, and the potential mechanism is unexplored [16].…”

Section: Introductionmentioning

confidence: 53%

Common Genetic Variants of the Human Steroid 21-Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels

et al. 2014

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PurposeSystematic evaluation of the potential relationship between the common genetic variants of CYP21A2 and hormone levels.MethodsThe relationships of CYP21A2 intron 2 polymorphisms and haplotypes with diverse baseline and stimulated blood hormone levels were studied in 106 subjects with non-functioning adrenal incidentaloma (NFAI). The rationale for using NFAI subjects is dual: i) their baseline hormone profiles do not differ from those of healthy subjects and ii) hormone levels after stimulation tests are available.ResultsThe carriers (N = 27) of a well-defined CYP21A2 haplotype cluster (c5) had significantly elevated levels of cortisol (p = 0.0110), and 17-hydroxyprogesterone (p = 0.0001) after ACTH stimulation, and 11-deoxycortisol after metyrapone administration (p = 0.0017), but the hormone values were in normal ranges. In addition, the carriers (N = 33) of the C allele of the rs6462 polymorphism had a higher baseline aldosterone level (p = 0.0006). The prevalence of these genetic variants of CYP21A2 did not differ between NFAI and healthy subjects.ConclusionsThe common CYP21A2 variants presumably exert the same effect on hormone levels in the healthy and disease-affected populations. Therefore, they may contribute to complex diseases such as some cardiovascular diseases, and may influence the genotype-phenotype correlation in patients with congenital adrenal hyperplasia (CAH) including the individual need for hormone substitution.

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Section: Introductionmentioning

confidence: 53%

Common Genetic Variants of the Human Steroid 21-Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels

et al. 2014

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“…Some cases of ACC in conjunction with congenital adrenal hyperplasia (CAH) have been described (75). However, the co-occurrence of a rare tumor and a fairly common genetic syndrome make this association unconvincing at this point (76). Furthermore, there is currently no support for this association from large CAH registries.…”

Section: Genetic Predispositionmentioning

confidence: 97%

Adrenocortical Carcinoma

et al. 2013

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Adrenocortical carcinoma (ACC) is a rare endocrine malignancy, often with an unfavorable prognosis. Here we summarize the knowledge about diagnosis, epidemiology, pathophysiology, and therapy of ACC. Over recent years, multidisciplinary clinics have formed and the first international treatment trials have been conducted. This review focuses on evidence gained from recent basic science and clinical research and provides perspectives from the experience of a large multidisciplinary clinic dedicated to the care of patients with ACC.

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“…5,17 The importance of adequate glucocorticoid therapy should be emphasized, though development of a huge adrenal adenoma despite long-term steroid replacement in a female patient has been described. 19 Therefore, CAH should be included in a differential diagnosis of adrenal incidentaloma, and a diagnostic approach should be performed to reveal subclinical CAH in all patients with an adrenal incidentaloma. 19 Therefore, CAH should be included in a differential diagnosis of adrenal incidentaloma, and a diagnostic approach should be performed to reveal subclinical CAH in all patients with an adrenal incidentaloma.…”

Section: Discussionmentioning

confidence: 99%

21-Hydroxylase Deficiency Presenting as an Adrenal Incidentaloma

Takahashi¹,

Yamamoto²,

Yamamoto³

et al. 2008

The Endocrinologist

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An adrenocortical adenoma was found incidentally in a 45-year-old man with 21-hydroxylase deficiency. A urinary steroid profile was obtained, which indicated the deficiency with elevated 17-OH-progesterone. CT scans showed a well-circumscribed lowdensity supra-renal mass, whereas MRI revealed a heterogeneous tumor with low intensity on T1-weighted images and high intensity on T2-weighted images. A laparoscopic adrenalectomy was performed, and pathologic findings indicated a benign adrenocortical adenoma. Genetic analysis of the CYP21A2 gene identified mutations of I172N (Ile to Asn) in exon 4, I236N (Ile to Asn), V237E (Val to Glu), and M239K (Met to Lys) in exon 6. We point out again the well-known association of congenital adrenal hyperplasia with the new radiologic diagnosis of incidental adrenal adenoma.

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The role of 21-hydroxylase in the pathogenesis of adrenal masses: Review of the literature and focus on our own experience

Cited by 18 publications

References 76 publications

Common Genetic Variants of the Human Steroid 21-Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels

Common Genetic Variants of the Human Steroid 21-Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels

Adrenocortical Carcinoma

21-Hydroxylase Deficiency Presenting as an Adrenal Incidentaloma

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