2016
DOI: 10.1186/s13633-016-0030-x
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46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing

Abstract: Background17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was determined by βHCG-stimulated ratios of testosterone:androstenedione < 0.8.Case presentationAn otherwise phenotypically female infant presented with bilateral inguinal masses and a 46,XY karyotype. βHCG stimulation (1500 IU IM for 2 days) suggested 17βHSD3 deficiency although androstenedione wa… Show more

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Cited by 7 publications
(13 citation statements)
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“…The sources included a broad array of participant numbers, ranging from sources with unclear numbers of people with intersex variations (Dwyer et al, 2015;Howard, 2015;Kim et al, 2015;Rios et al, 2015) through to a source with 272 participants specifically from the group (Jones, 2016). Higher numbers were rare, however, as over a third of the sources focused on only one participant (Amanda, 2015; Bonanni et al, 2015;Brasileiro et al, 2016;Ceci et al, 2015;Cynthia, 2015;Davis, 2015b;Garcia, 2015;Grimbly et al, 2016;Grover et al, 2015;Gül et al, 2015;Inter, 2015;Kalra et al, 2016;Long, 2015;Mannaerts et al, 2015;Mutlu et al, 2015;Pagonis, 2015;Palanisamy et al, 2015;Paula et al, 2015;Petersen, 2015;Quinn, 2015;Simon, 2015;Truffer, 2015;Viloria, 2015;von Klan, 2015;Walsh, 2015;Zieselman, 2015). Almost as many had no direct participants with intersex variations and, instead, used the general existence of the group, other participants, or secondary sources to make key arguments about intersex variations (Achermann et al, 2015;Anderson, 2015;Anonymous, 2016;Baratz & Karkazis, 2015;Dreger, 2015;Frader, 2015;Grimes, 2016;…”
Section: Methods and Participant Numbersmentioning
confidence: 99%
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“…The sources included a broad array of participant numbers, ranging from sources with unclear numbers of people with intersex variations (Dwyer et al, 2015;Howard, 2015;Kim et al, 2015;Rios et al, 2015) through to a source with 272 participants specifically from the group (Jones, 2016). Higher numbers were rare, however, as over a third of the sources focused on only one participant (Amanda, 2015; Bonanni et al, 2015;Brasileiro et al, 2016;Ceci et al, 2015;Cynthia, 2015;Davis, 2015b;Garcia, 2015;Grimbly et al, 2016;Grover et al, 2015;Gül et al, 2015;Inter, 2015;Kalra et al, 2016;Long, 2015;Mannaerts et al, 2015;Mutlu et al, 2015;Pagonis, 2015;Palanisamy et al, 2015;Paula et al, 2015;Petersen, 2015;Quinn, 2015;Simon, 2015;Truffer, 2015;Viloria, 2015;von Klan, 2015;Walsh, 2015;Zieselman, 2015). Almost as many had no direct participants with intersex variations and, instead, used the general existence of the group, other participants, or secondary sources to make key arguments about intersex variations (Achermann et al, 2015;Anderson, 2015;Anonymous, 2016;Baratz & Karkazis, 2015;Dreger, 2015;Frader, 2015;Grimes, 2016;…”
Section: Methods and Participant Numbersmentioning
confidence: 99%
“…The overwhelming majority of the sources came from peer-reviewed journals (Achermann et al, 2015;Ahmed & Fadl-Elmula, 2016;Amanda, 2015;Amarillo et al, 2016;Anderson, 2015;Anonymous, 2016;Baratz & Karkazis, 2015;Bonanni et al, 2015;Brasileiro et al, 2016;Camats et al, 2015;Ceci et al, 2015;Cynthia, 2015;Davis, 2015b;Dong et al, 2016;Dwyer et al, 2015;Ediati et al, 2015;Ekenze et al, 2015;Frader, 2015;Garcia, 2015;Grimbly et al, 2016;Grimes, 2016;Grover et al, 2015;Gül et al, 2015;Howard, 2015;Inter, 2015;Jones, 2016;Kalra et al, 2016;Kelsey et al, 2016;Khadilkar et al, 2015;Kim et al, 2015;Kraus, 2015;Lalor, 2015;Latrech et al, 2015;Lin-Su et al, 2015;Long, 2015;Lucas-Herald et al, 2015;Mannaerts et al, 2015;Miller, 2015;Mohamed & Noor, 2015;Mutlu et al, 2015;Oliveira et al, 2015;…”
Section: Source Contextsmentioning
confidence: 99%
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