The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
Abstract
Androgen insensitivity syndrome (AIS) is caused by mutations in the androgen receptor gene and is associated with a variety of phenotypes in 46,XY individuals, ranging from phenotypic women [complete form (CAIS)] to men with minor degrees of undervirilization or infertility [partial form (PAIS)]. We studied 32 subjects with male pseudohermaphroditism from 20 families (9 CAIS, 11 PAIS) with the following criteria for AIS: 46,XY karyotype, normal male basal and human chorionic gonadotropin-stimulated levels of serum testosterone and steroid precursors, gynecomastia at puberty, and, in prepubertal patients, a family history suggestive of X-linked inheritance. The entire coding region of the androgen receptor gene was analyzed, and mutations were found in all families with CAIS and in eight of 11 families with PAIS. Fifteen different mutations were identified, including five (S119X, T602P, L768V, I898F, and P904V) that have not been described previously. Detailed clinical and hormonal features were compared with genotype in 25 subjects with AIS and confirmed by mutational analysis. LH hormone levels and the LH x testosterone product were high in all postpubertal subjects with AIS. All subjects with PAIS maintained at postpubertal age the gender identity and social sex that was assigned to them in infancy, in contrast to other forms of pseudohermaphroditism.
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Cites
Variations in the pattern of pubertal changes in boys
Marshall, W. A., & Tanner, J. M. (1970) · Archives of Disease in Childhood · doi:10.1136/adc.45.239.13 · Cited by 5,147
Genotype Versus Phenotype in Families with Androgen Insensitivity Syndrome
Boehmer, A. L. M., Brüggenwirth, H., van Assendelft, C., Otten, B. J., Verleun-Mooijman, M. C. T., Niermeijer, M. F., Brunner, H. G., Rouwé, C. W., Waelkens, J. J., Oostdijk, W., et al. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.9.7825 · Cited by 290
McPhaul, M. J., Marcelli, M., Zoppi, S., Wilson, C. M., Griffin, J. E., & Wilson, J. D. (1992) · Journal of Clinical Investigation · doi:10.1172/jci116093 · Cited by 140
Mendonca, B. B., Inacio, M., Arnhold, I. J. P., Costa, E. M. F., Bloise, W., Martin, R. M., Denes, F. T., Silva, F. A. Q., Andersson, S., Lindqvist, A., et al. (2000) · Medicine · doi:10.1097/00005792-200009000-00003 · Cited by 139
Self-citation
Cited by
HUNTER, S. K., S. ANGADI, S., BHARGAVA, A., HARPER, J., HIRSCHBERG, A. L., D. LEVINE, B., L. MOREAU, K., J. NOKOFF, N., STACHENFELD, N. S., & BERMON, S. (2023) · Medicine & Science in Sports & Exercise · doi:10.1249/mss.0000000000003300 · Cited by 241
Raven, G., de Jong, F. H., Kaufman, J.-M., & de Ronde, W. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0462 · Cited by 134
Nordenström, A., Ahmed, S. F., van den Akker, E., Blair, J., Bonomi, M., Brachet, C., Broersen, L. H. A., Claahsen-van der Grinten, H. L., Dessens, A. B., Gawlik, A., et al. (2022) · European Journal of Endocrinology · doi:10.1530/eje-22-0073 · Cited by 108
Fisher, A. D., Ristori, J., Fanni, E., Castellini, G., Forti, G., & Maggi, M. (2016) · Journal of Endocrinological Investigation · doi:10.1007/s40618-016-0482-0 · Cited by 100
Fetal hormones and sexual differentiation
Sobel, V., Zhu, Y.-S., & Imperato-McGinley, J. (2004) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/j.ogc.2004.08.005 · Cited by 44
Metadata
- Authors
- Melo, K. F. S., Mendonca, B. B., Billerbeck, A. E. C., Costa, E. M. F., Inácio, M., Silva, F. A. Q., Leal, A. M. O., Latronico, A. C., & Arnhold, I. J. P.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2003-07
- Volume
- 88
- Issue
- 7
- Pages
- 3241-3250
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2011689173
- Cited by
- 189
- References
- 4
- FWCI
- 2.79
- Type
- journal article
- Language
- en
- Open access
- closed
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- Melo, K. F. S., Mendonca, B. B., Billerbeck, A. E. C., Costa, E. M. F., Inácio, M., Silva, F. A. Q., Leal, A. M. O., Latronico, A. C., & Arnhold, I. J. P. (2003). Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene. The Journal of Clinical Endocrinology & Metabolism. https://doi.org/10.1210/jc.2002-021658
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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