The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Cushing’s Syndrome Secondary to Adrenocorticotropin-Independent Macronodular Adrenocortical Hyperplasia due to Activating Mutations of GNAS1 Gene
Abstract
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an uncommon cause of Cushing's syndrome characterized by bilateral nodular adrenocortical hyperfunction in the presence of suppressed ACTH levels. We investigated whether activating mutations in the ACTH receptor (MC2-R) or G(s alpha) (GNAS1) genes might be involved in AIMAH genesis. Five women with Cushing's syndrome due to AIMAH, confirmed by histological studies, and no signs of McCune-Albright syndrome were selected for molecular analysis of these genes. The single exon of the MC2-R gene and exons 8 and 9 of the GNAS1 gene were amplified by PCR in genomic DNA from adrenal nodules and peripheral blood. Direct sequencing revealed only MC2-R wild-type sequences. GNAS1 PCR products at denaturing gradient gel electrophoresis revealed abnormal migration patterns in adrenal tissues of three patients. Automatic sequencing showed two different activating mutations at codon Arg(201) of GNAS1, a substitution by histidine in two cases and by serine in one case. In conclusion, we found two different gsp mutations in three patients with Cushing's syndrome due to AIMAH, and we speculate whether they belong to the spectrum of McCune-Albright syndrome or whether these are the first reported cases of AIMAH due to gsp mutations.
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Cites
Intraadrenal interactions in the regulation of adrenocortical steroidogenesis.
Ehrhart-Bornstein, M., Hinson, J. P., Bornstein, S. R., Scherbaum, W. A., & Vinson, G. P. (1998) · Endocrine Reviews · doi:10.1210/edrv.19.2.0326 · Cited by 600
Leuprolide acetate therapy in luteinizing hormone-dependent Cushing's syndrome.
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Propranolol therapy for ectopic β-adrenergic receptors in adrenal Cushing's syndrome.
Lacroix, A., Tremblay, J., Rousseau, G., Bouvier, M., & Hamet, P. (1997) · New England Journal of Medicine · doi:10.1056/nejm199711133372004 · Cited by 204
Cited by
Lacroix, A., Feelders, R. A., Stratakis, C. A., & Nieman, L. K. (2015) · The Lancet · doi:10.1016/s0140-6736(14)61375-1 · Cited by 1,777
Constitutive activation of PKA catalytic subunit in adrenal Cushing’s syndrome
Beuschlein, F., Fassnacht, M., Assié, G., Calebiro, D., Stratakis, C. A., Osswald, A., Ronchi, C. L., Wieland, T., Sbiera, S., Faucz, F. R., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1310359 · Cited by 443
Activating hotspot L205R mutation in PRKACA and adrenal Cushing’s syndrome
Cao, Y., He, M., Gao, Z., Peng, Y., Li, Y., Li, L., Zhou, W., Li, X., Zhong, X., Lei, Y., et al. (2014) · Science · doi:10.1126/science.1249480 · Cited by 232
Molecular genetics of adrenocortical tumours, from familial to sporadic diseases
Libé, R., & Bertherat, J. (2005) · European Journal of Endocrinology · doi:10.1530/eje.1.02004 · Cited by 168
ARMC5 Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia
Alencar, G. A., Lerario, A. M., Nishi, M. Y., Mariani, B. M. D. P., Almeida, M. Q., Tremblay, J., Hamet, P., Bourdeau, I., Zerbini, M. C. N., Pereira, M. A. A., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-4237 · Cited by 162
Metadata
- Authors
- Fragoso, M. C. B. V., Domenice, S., Latronico, A. C., Martin, R. M., Pereira, M. A. A., Zerbini, M. C. N., Lucon, A. M., & Mendonca, B. B.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2003-05
- Volume
- 88
- Issue
- 5
- Pages
- 2147-2151
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W1999873982
- Cited by
- 190
- References
- 3
- FWCI
- 9.71
- Type
- journal article
- Language
- en
- Open access
- closed
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- Fragoso, M. C. B. V., Domenice, S., Latronico, A. C., Martin, R. M., Pereira, M. A. A., Zerbini, M. C. N., Lucon, A. M., & Mendonca, B. B. (2003). Cushing’s Syndrome Secondary to Adrenocorticotropin-Independent Macronodular Adrenocortical Hyperplasia due to Activating Mutations of GNAS1 Gene. The Journal of Clinical Endocrinology & Metabolism. https://doi.org/10.1210/jc.2002-021362
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
