46,XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency

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dc.contributor Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.author MENDONCA, Berenice B. FMUSP-HC
GOMES, Nathalia Lisboa FMUSP-HC
COSTA, Elaine M. F. FMUSP-HC
INACIO, Marlene FMUSP-HC
MARTIN, Regina M. FMUSP-HC
NISHI, Mirian Y. FMUSP-HC
CARVALHO, Filomena Marino FMUSP-HC
TIBOR, Francisco Denes FMUSP-HC
DOMENICE, Sorahia FMUSP-HC
dc.date.issued 2017
dc.identifier.citation JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, v.165, Special Issue, p.79-85, 2017
dc.identifier.issn 0960-0760
dc.identifier.uri http://observatorio.fm.usp.br/handle/OPI/17836
dc.description.abstract 17 beta-hydroxysteroid dehydrogenase 3 deficiency consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. External genitalia range from female-like to atypical genitalia and most affected males are raised as females. Virilization in subjects with 17 beta-HSD3 deficiency occurs at the time of puberty and several of them change to male social sex. In male social sex patients, testes can be safely maintained, as long as they are positioned inside the scrotum The phenotype of 46,XY DSD due to 17 beta-HSD3 deficiency is extremely variable and clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5 alpha-reductase 2 deficiency. Laboratory diagnosis is based on a low testosterone/androstenedione ratio due to high serum levels of androstenedione and low levels of testosterone. The disorder is caused by a homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17 beta-HSD3 isoenzyme leading to an impairment of the conversion of 17-keto into 17-hydroxysteroids. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review-the previously reported cases of 17 beta-HSD3 deficiency adding our own cases. (C) 2016 Published by Elsevier Ltd.
dc.description.sponsorship · Sao Paulo Research Foundation [2013/02162-8]
· CNPQ [305743/2011-2]
· Fundacao de Amparo a Pesquisa do Estado de Sao Paulo [FAPESP 2013/02162-8]
dc.language.iso eng
dc.publisher PERGAMON-ELSEVIER SCIENCE LTD
dc.relation.ispartof Journal of Steroid Biochemistry and Molecular Biology
dc.rights restrictedAccess
dc.subject 17 beta-Hydroxysteroid dehydrogenase 3; 46,XY DSD; Ambiguous genitalia; Gender role; Testosterone synthesis defect; HSD17B3 gene; Germ cell tumor
dc.subject.other 17-ketosteroid reductase deficiency; beta-hydroxysteroid dehydrogenases; of-the-literature; germ-cell tumors; male pseudohermaphroditism; 17-beta-hsd3 deficiency; phenotypic variability; molecular-genetics; hsd17b3 gene; mutation
dc.title 46,XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency
dc.type article
dc.rights.holder Copyright PERGAMON-ELSEVIER SCIENCE LTD
dc.description.group LIM/42
dc.description.group LIM/14
dc.description.group LIM/55
dc.identifier.doi 10.1016/j.jsbmb.2016.05.002
dc.identifier.pmid 27163392
dc.type.category review
dc.type.version publishedVersion
hcfmusp.author MENDONCA, Berenice B.:FM:MCM
hcfmusp.author GOMES, Nathalia Lisboa:FM:
hcfmusp.author COSTA, Elaine M. F.:HC:ICHC
hcfmusp.author INACIO, Marlene:HC:ICHC
hcfmusp.author MARTIN, Regina M.:HC:ICHC
hcfmusp.author NISHI, Mirian Y.:HC:LIM/42
hcfmusp.author CARVALHO, Filomena Marino:FM:MPT
hcfmusp.author TIBOR, Francisco Denes:HC:ICHC
hcfmusp.author DOMENICE, Sorahia:HC:ICHC
hcfmusp.origem.id 2-s2.0-84998911196
hcfmusp.origem.id WOS:000390506200010
hcfmusp.publisher.city OXFORD
hcfmusp.publisher.country ENGLAND
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dc.description.index MEDLINE
hcfmusp.citation.scopus 18
hcfmusp.citation.wos 13


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