46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing

BACKGROUND: 17β-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....

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Autores principales: Grimbly, Chelsey, Caluseriu, Oana, Metcalfe, Peter, Jetha, Mary M., Rosolowsky, Elizabeth T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908721/
https://www.ncbi.nlm.nih.gov/pubmed/27307783
http://dx.doi.org/10.1186/s13633-016-0030-x
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author Grimbly, Chelsey
Caluseriu, Oana
Metcalfe, Peter
Jetha, Mary M.
Rosolowsky, Elizabeth T.
author_facet Grimbly, Chelsey
Caluseriu, Oana
Metcalfe, Peter
Jetha, Mary M.
Rosolowsky, Elizabeth T.
author_sort Grimbly, Chelsey
collection PubMed
description BACKGROUND: 17β-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 PRESENTATION: An 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 was only minimally stimulated (4.5 nmol/L to 5.4 nmol/L). Expedient genetic testing for the HSD17B3 gene provided the unequivocal diagnosis. CONCLUSION: We advocate for urgent genetic testing in rare causes of DSD as indeterminate hormone results can delay diagnosis and prolong intervention.
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spelling pubmed-49087212016-06-16 46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing Grimbly, Chelsey Caluseriu, Oana Metcalfe, Peter Jetha, Mary M. Rosolowsky, Elizabeth T. Int J Pediatr Endocrinol Case Report BACKGROUND: 17β-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 PRESENTATION: An 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 was only minimally stimulated (4.5 nmol/L to 5.4 nmol/L). Expedient genetic testing for the HSD17B3 gene provided the unequivocal diagnosis. CONCLUSION: We advocate for urgent genetic testing in rare causes of DSD as indeterminate hormone results can delay diagnosis and prolong intervention. BioMed Central 2016-06-15 2016 /pmc/articles/PMC4908721/ /pubmed/27307783 http://dx.doi.org/10.1186/s13633-016-0030-x Text en © Grimbly et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Grimbly, Chelsey
Caluseriu, Oana
Metcalfe, Peter
Jetha, Mary M.
Rosolowsky, Elizabeth T.
46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing
title 46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing
title_full 46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing
title_fullStr 46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing
title_full_unstemmed 46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing
title_short 46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing
title_sort 46,xy disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908721/
https://www.ncbi.nlm.nih.gov/pubmed/27307783
http://dx.doi.org/10.1186/s13633-016-0030-x
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