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Placental steroid sulphatase deficiency: an approach to antenatal care and delivery

Placental steroid sulphatase deficiency (SSD) is an X-linked inborn error of metabolism. Congenital X-linked ichthyosis (XLI) is a genetic disorder of keratinisation caused by steroid sulphatase (STS) deficiency, which results in a scaling skin condition in male infants shortly after birth. It may b...

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Autores principales: Dreyer, Frieda-Elsje, Abdulrahman, Ganiy Opeyemi, Waring, Gareth, Hinshaw, Kim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302985/
https://www.ncbi.nlm.nih.gov/pubmed/30531180
http://dx.doi.org/10.5144/0256-4947.2018.445
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author Dreyer, Frieda-Elsje
Abdulrahman, Ganiy Opeyemi
Waring, Gareth
Hinshaw, Kim
author_facet Dreyer, Frieda-Elsje
Abdulrahman, Ganiy Opeyemi
Waring, Gareth
Hinshaw, Kim
author_sort Dreyer, Frieda-Elsje
collection PubMed
description Placental steroid sulphatase deficiency (SSD) is an X-linked inborn error of metabolism. Congenital X-linked ichthyosis (XLI) is a genetic disorder of keratinisation caused by steroid sulphatase (STS) deficiency, which results in a scaling skin condition in male infants shortly after birth. It may be associated with failed induction of labor and prolonged labor leading to cesarean delivery due to ‘cervical dystocia’. We present two cases of congenital ichthyosis. Thorough counselling of women with a previously affected pregnancy during the antenatal period should include discussion about mode of delivery and a critical review of the complexities of prenatal diagnosis in this condition. We propose a clinical management pathway to offer women with a previous pregnancy affected by this rare condition. SIMILAR CASES PUBLISHED: Less than 50 cases reported.
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spelling pubmed-63029852019-01-08 Placental steroid sulphatase deficiency: an approach to antenatal care and delivery Dreyer, Frieda-Elsje Abdulrahman, Ganiy Opeyemi Waring, Gareth Hinshaw, Kim Ann Saudi Med Case Report Placental steroid sulphatase deficiency (SSD) is an X-linked inborn error of metabolism. Congenital X-linked ichthyosis (XLI) is a genetic disorder of keratinisation caused by steroid sulphatase (STS) deficiency, which results in a scaling skin condition in male infants shortly after birth. It may be associated with failed induction of labor and prolonged labor leading to cesarean delivery due to ‘cervical dystocia’. We present two cases of congenital ichthyosis. Thorough counselling of women with a previously affected pregnancy during the antenatal period should include discussion about mode of delivery and a critical review of the complexities of prenatal diagnosis in this condition. We propose a clinical management pathway to offer women with a previous pregnancy affected by this rare condition. SIMILAR CASES PUBLISHED: Less than 50 cases reported. King Faisal Specialist Hospital and Research Centre 2018 2018-12-06 /pmc/articles/PMC6302985/ /pubmed/30531180 http://dx.doi.org/10.5144/0256-4947.2018.445 Text en Copyright © 2018, Annals of Saudi Medicine This is an open access article under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND). The details of which can be accessed at http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Case Report
Dreyer, Frieda-Elsje
Abdulrahman, Ganiy Opeyemi
Waring, Gareth
Hinshaw, Kim
Placental steroid sulphatase deficiency: an approach to antenatal care and delivery
title Placental steroid sulphatase deficiency: an approach to antenatal care and delivery
title_full Placental steroid sulphatase deficiency: an approach to antenatal care and delivery
title_fullStr Placental steroid sulphatase deficiency: an approach to antenatal care and delivery
title_full_unstemmed Placental steroid sulphatase deficiency: an approach to antenatal care and delivery
title_short Placental steroid sulphatase deficiency: an approach to antenatal care and delivery
title_sort placental steroid sulphatase deficiency: an approach to antenatal care and delivery
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302985/
https://www.ncbi.nlm.nih.gov/pubmed/30531180
http://dx.doi.org/10.5144/0256-4947.2018.445
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