Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorWISNIEWSKI, Amy B.
dc.contributor.authorBATISTA, Rafael L.
dc.contributor.authorCOSTA, Elaine M. F.
dc.contributor.authorFINLAYSON, Courtney
dc.contributor.authorSIRCILI, Maria Helena Palma
dc.contributor.authorDENES, Francisco Tibor
dc.contributor.authorDOMENICE, Sorahia
dc.contributor.authorMENDONCA, Berenice B.
dc.date.accessioned2020-03-24T14:45:12Z
dc.date.available2020-03-24T14:45:12Z
dc.date.issued2019
dc.description.abstractDifferences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. Advances in the clinical care of patients and families affected by 46,XY DSD have been achieved since publication of the original Consensusmeeting in 2006. The aims of this paper are to review what is known about morbidity and mortality, diagnostic tools and timing, sex of rearing, endocrine and surgical treatment, fertility and sexual function, and quality of life in people with 46,XY DSD. The role for interdisciplinary health care teams, importance of establishing a molecular diagnosis, and need for research collaborations using patient registries to better understand long-term outcomes of specific medical and surgical interventions are acknowledged and accepted. Topics that require further study include prevalence and incidence, understanding morbidity and mortality as these relate to specific etiologies underlying 46,XY DSD, appropriate and optimal options for genitoplasty, long-term quality of life, sexual function, involvement with intimate partners, and optimizing fertility potential.eng
dc.description.indexMEDLINEeng
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)National Council for Scientific and Technological Development (CNPq) [305743/2011-2, 303002/2016-6]
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [05/04726-0, 07/512156, 10/51102-0, 2013/02162-8, 2014/50137-5]
dc.identifier.citationENDOCRINE REVIEWS, v.40, n.6, p.1547-1572, 2019
dc.identifier.doi10.1210/er.2019-00049
dc.identifier.eissn1945-7189
dc.identifier.issn0163-769X
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/35381
dc.language.isoeng
dc.publisherENDOCRINE SOCeng
dc.relation.ispartofEndocrine Reviews
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright ENDOCRINE SOCeng
dc.subject.otherandrogen insensitivity syndromeeng
dc.subject.otherquality-of-lifeeng
dc.subject.othercongenital adrenal-hyperplasiaeng
dc.subject.otherworld-health-organizationeng
dc.subject.otherbone-mineral densityeng
dc.subject.othergerm-cell tumorseng
dc.subject.otherglazel feminizing genitoplastyeng
dc.subject.other5-alpha-reductase 2 deficiencyeng
dc.subject.otherfamily-centered careeng
dc.subject.otherambiguous genitaliaeng
dc.subject.wosEndocrinology & Metabolismeng
dc.titleManagement of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Lifeeng
dc.typearticleeng
dc.type.categoryrevieweng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryEstados Unidos
hcfmusp.affiliation.countryisous
hcfmusp.author.externalWISNIEWSKI, Amy B.:Oklahoma State Univ, Psychol Dept, Stillwater, OK 74078 USA
hcfmusp.author.externalFINLAYSON, Courtney:Northwestern Univ, Ann & Robert H Lurie Childrens Hosp Chicago, Div Endocrinol, Feinberg Sch Med, Chicago, IL 60611 USA
hcfmusp.citation.scopus71
hcfmusp.contributor.author-fmusphcRAFAEL LOCH BATISTA
hcfmusp.contributor.author-fmusphcELAINE MARIA FRADE COSTA
hcfmusp.contributor.author-fmusphcMARIA HELENA PALMA SIRCILI
hcfmusp.contributor.author-fmusphcFRANCISCO TIBOR DENES
hcfmusp.contributor.author-fmusphcSORAHIA DOMENICE
hcfmusp.contributor.author-fmusphcBERENICE BILHARINHO DE MENDONCA
hcfmusp.description.beginpage1547
hcfmusp.description.endpage1572
hcfmusp.description.issue6
hcfmusp.description.volume40
hcfmusp.origemWOS
hcfmusp.origem.pubmed31365064
hcfmusp.origem.scopus2-s2.0-85074306441
hcfmusp.origem.wosWOS:000508198800006
hcfmusp.publisher.cityWASHINGTONeng
hcfmusp.publisher.countryUSAeng
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