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Clinical and biochemical impact of BCL1 polymorphic genotype of the glucocorticoid receptor gene in patients with adrenal incidentalomas

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Abstract

Background: Adrenal incidentaloma (AI) is a common clinical problem. Subtle hormonal abnormalities are present in a substantial proportion of patients. BCL1 gene polymorphism of the glucocorticoid receptor (GR) is associated with increased sensitivity to glucocorticoid action. The genotype-phenotype associations of this polymomorphism in patients presenting with AI has not been extensively investigated. Aim: A cross-sectional study in secondary/tertiary care centers. Subjects/methods: Ninety-five subjects with AI were genotyped for the BCL1 GR gene polymorphism. Patients underwent an oral glucose tolerance test and a dexamethasone suppression test (DST). The presence of subclinical hypercortisolism, features of metabolic syndrome, and osteoporosis/osteopenia were also assessed. Results: No significant differences in markers of adrenal function between BCL1 carriers and non-carriers were revealed. Also, no difference was found in the features of metabolic syndrome, as well as in bone metabolism and density between these 2 groups. However, DST suppressor patients belonged more frequently to the BCL1 carriers group (41 out of 69 patients, 59.4% vs 9 out of 26 patients, 34.6%, p=0.0039), had smaller total adenoma size (2.4±0.2 cm vs 3.5±0.4 cm, p=0.04), and lower incidence of bilateral adrenal masses (18.8% vs 46.2%, p=0.01). Conclusions: AI patients who also carry the polymorphic BCL1 variant exhibit smaller size adrenal nodules. Those AI patients with complete DST suppression had a higher incidence of the polymorphic BCL1 variant. However, this study failed to demonstrate any significant impact of BCL1 GR polymorphism on the frequency of cortisol-dependent co-morbidities in patients with AI.

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Authors and Affiliations

  1. Department of Endocrinology, “Evangelismos” Hospital, 45-47, Ipsilantous St, 10676, Athens, Greece

    M. Tzanela, N. Kalogeris & S. Tsagarakis

  2. Department of Endocrinology, Metabolism and Diabetes, “Evgenideion” Hospital, Athens University School of Medicine, Athens, Greece

    E. Mantzou, K. Saltiki & M. Alevizaki

  3. Department of Endocrinology, “Athens Polyclinic”, Athens, Greece

    M. Tampourlou & S. Tsagarakis

  4. 2nd Department of Internal Medicine-Propaedeutic, “Attikon” and “Evgenideion” Hospitals, Athens University School of Medicine, Athens, Greece

    D. Hadjidakis

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  1. M. Tzanela
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  2. E. Mantzou
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  3. K. Saltiki
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  4. M. Tampourlou
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  5. N. Kalogeris
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  6. D. Hadjidakis
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  7. S. Tsagarakis
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  8. M. Alevizaki
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Correspondence to S. Tsagarakis.

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Tzanela, M., Mantzou, E., Saltiki, K. et al. Clinical and biochemical impact of BCL1 polymorphic genotype of the glucocorticoid receptor gene in patients with adrenal incidentalomas. J Endocrinol Invest 35, 395–400 (2012). https://doi.org/10.3275/7840

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