17-hydroxyprogesterone Deficiency As A Cause Of Sexual Infantilism And Arterial Hypertension: Laboratory And Molecular Diagnosis--a Case Report.

dc.creatorBenetti-Pinto, Cristina Laguna
dc.creatorVale, Diama
dc.creatorGarmes, Heraldo
dc.creatorBedone, Aloísio
dc.date2007-Feb
dc.date2015-11-27T13:10:02Z
dc.date2015-11-27T13:10:02Z
dc.date.accessioned2018-03-29T01:04:42Z
dc.date.available2018-03-29T01:04:42Z
dc.identifierGynecological Endocrinology : The Official Journal Of The International Society Of Gynecological Endocrinology. v. 23, n. 2, p. 94-8, 2007-Feb.
dc.identifier0951-3590
dc.identifier10.1080/09513590601152185
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/17454159
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/197259
dc.identifier17454159
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1297492
dc.descriptionThe differential diagnosis of hypertension associated with hypokalemia in infancy and adolescence should necessarily include deficiency of the 17alpha-hydroxylase enzyme, a rare form of congenital adrenal hyperplasia (CAH). In addition to hypertension, the classic syndrome caused by this deficiency is characterized by suppressed production of sex hormones and consequently sexual infantilism. Although rare (1% of all forms of CAH), there appears to be a higher incidence of this syndrome in some population groups. This is a case report on two sisters followed up at the Department of Obstetrics and Gynecology, School of Medicine, Universidade Estadual de Campinas (UNICAMP), who were both found to have the 46,XY genotype with homozygosis for W406R, exon 7 of the CYP17 gene (OMIM 202110). The condition was diagnosed only at puberty when hypergonadotropic hypogonadism resulted in sexual infantilism; however, arterial hypertension had been present since infancy and late diagnosis and lack of timely adequate treatment resulted in complications.
dc.description23
dc.description94-8
dc.languageeng
dc.relationGynecological Endocrinology : The Official Journal Of The International Society Of Gynecological Endocrinology
dc.relationGynecol. Endocrinol.
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subject17-alpha-hydroxyprogesterone
dc.subjectAdolescent
dc.subjectAdrenal Hyperplasia, Congenital
dc.subjectAmenorrhea
dc.subjectDeficiency Diseases
dc.subjectFemale
dc.subjectHumans
dc.subjectHypertension
dc.subjectSexual Infantilism
dc.subjectSteroid 17-alpha-hydroxylase
dc.title17-hydroxyprogesterone Deficiency As A Cause Of Sexual Infantilism And Arterial Hypertension: Laboratory And Molecular Diagnosis--a Case Report.
dc.typeArtículos de revistas


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