Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/50628
DC FieldValueLanguage
dc.contributor.authorBoronat, M.en_US
dc.contributor.authorCarrillo, A.en_US
dc.contributor.authorOjeda Sosa, Ana Mariaen_US
dc.contributor.authorEstrada, J.en_US
dc.contributor.authorEzquieta, B.en_US
dc.contributor.authorMarín, F.en_US
dc.contributor.authorNovoa Mogollón, Franciscoen_US
dc.date.accessioned2018-11-24T17:34:07Z-
dc.date.available2018-11-24T17:34:07Z-
dc.date.issued2004en_US
dc.identifier.issn0391-4097en_US
dc.identifier.urihttp://hdl.handle.net/10553/50628-
dc.description.abstractThe development of Cushing’s disease among patients with deficiency of 21-hy-droxylase has not been observed to date. The clinical manifestations and the hormonal profile of this exceptional association are herein described through the study of two cases. The first one was a 39-yr-old woman who had undergone non-curative transsphenoidal surgery for a pituitary-dependent Cushing’s syndrome 12 yr before. She showed hypertension, central obesity, severe hirsutism, alopecia and hyperpigmentation. Urinary excretion of cortisol was normal, but ACTH levels were very high and hormonal dynamic studies (cortisol circadian rhythm, insulin-induced hypoglycemia and dexamethasone suppression tests) revealed the qualitative disturbances that characterize Cushing’s disease. Serum concen-trations of androstenedione, free testosterone and 17-hydroxyprogesterone were clearly increased. Reexamination of the tissue samples from previous surgery confirmed the presence of an ACTH-producing pituitary adenoma. CYP21 gene analysis found the splicing 655G mutation at intron 2 and the V281L mutation at exon 7. The second case was a 21-yr-old woman who was diagnosed with pituitary ACTH-dependent Cushing’s syndrome according to unequivocal clinical and laboratory findings. However, hirsutism was particularly severe and both serum androgens and 17-hydroxyprogesterone were elevated. The patient was heterozygote for a large conversion of CYP21 gene. In these cases, the clinical and biochemical expression of Cushing’s syndrome was determined by the different severity of 21-hy-droxylase deficiency and the subsequent residual ability of adrenal cortex to synthesize cortisol.en_US
dc.languageengen_US
dc.relation.ispartofJournal of Endocrinological Investigationen_US
dc.sourceJournal of Endocrinological Investigation[ISSN 0391-4097],v. 27, p. 583-590 (Junio 2004)en_US
dc.subject32 Ciencias médicasen_US
dc.subject320502 Endocrinologíaen_US
dc.subject.otherPituitary adenomaen_US
dc.subject.other21-hydroxylaseen_US
dc.subject.otherCushing’s diseaseen_US
dc.subject.otherCongenital adrenal hyperplasiaen_US
dc.titleClinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylaseen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1007/BF03347484en_US
dc.identifier.scopus4544318495-
dc.contributor.authorscopusid7003952293-
dc.contributor.authorscopusid9043204000-
dc.contributor.authorscopusid57197129181-
dc.contributor.authorscopusid7006298995-
dc.contributor.authorscopusid6701503833-
dc.contributor.authorscopusid56363844100-
dc.contributor.authorscopusid12786120600-
dc.description.lastpage590en_US
dc.description.firstpage583en_US
dc.relation.volume27en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.description.numberofpages8en_US
dc.utils.revisionen_US
dc.date.coverdateJunio 2004en_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.jcr1,525-
dc.description.jcrqQ3-
dc.description.scieSCIE-
item.fulltextSin texto completo-
item.grantfulltextnone-
crisitem.author.deptGIR IUIBS: Diabetes y endocrinología aplicada-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Médicas y Quirúrgicas-
crisitem.author.deptGIR IUIBS: Diabetes y endocrinología aplicada-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.orcid0000-0001-8535-8543-
crisitem.author.orcid0000-0001-5657-5805-
crisitem.author.orcid0000-0003-3629-8120-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameBoronat Cortés, Mauro-
crisitem.author.fullNameOjeda Sosa, Ana Maria-
crisitem.author.fullNameNovoa Mogollón,Francisco-
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