Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation

Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia wh...

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Autores principales: Bakkar, Ayman A, Alsaedi, Abdulaziz, Kamal, Naglaa M, Althobaiti, Enad, Aboulkhair, Lujain A, Almalki, Abdullah M, Alsalmi, Shaima A, Alharthi, Qaydah, Abosabie, Sara A, Abosabie, Salma AS
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226314/
https://www.ncbi.nlm.nih.gov/pubmed/37255966
http://dx.doi.org/10.1177/11795514231167059
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author Bakkar, Ayman A
Alsaedi, Abdulaziz
Kamal, Naglaa M
Althobaiti, Enad
Aboulkhair, Lujain A
Almalki, Abdullah M
Alsalmi, Shaima A
Alharthi, Qaydah
Abosabie, Sara A
Abosabie, Salma AS
author_facet Bakkar, Ayman A
Alsaedi, Abdulaziz
Kamal, Naglaa M
Althobaiti, Enad
Aboulkhair, Lujain A
Almalki, Abdullah M
Alsalmi, Shaima A
Alharthi, Qaydah
Abosabie, Sara A
Abosabie, Salma AS
author_sort Bakkar, Ayman A
collection PubMed
description Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia who presented with significant salt loss with a novel homozygous variant mutation c.745-1G>C p. in StAR gene.
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spelling pubmed-102263142023-05-30 Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation Bakkar, Ayman A Alsaedi, Abdulaziz Kamal, Naglaa M Althobaiti, Enad Aboulkhair, Lujain A Almalki, Abdullah M Alsalmi, Shaima A Alharthi, Qaydah Abosabie, Sara A Abosabie, Salma AS Clin Med Insights Endocrinol Diabetes Original Research Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia who presented with significant salt loss with a novel homozygous variant mutation c.745-1G>C p. in StAR gene. SAGE Publications 2023-05-26 /pmc/articles/PMC10226314/ /pubmed/37255966 http://dx.doi.org/10.1177/11795514231167059 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page(https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Original Research
Bakkar, Ayman A
Alsaedi, Abdulaziz
Kamal, Naglaa M
Althobaiti, Enad
Aboulkhair, Lujain A
Almalki, Abdullah M
Alsalmi, Shaima A
Alharthi, Qaydah
Abosabie, Sara A
Abosabie, Salma AS
Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation
title Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation
title_full Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation
title_fullStr Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation
title_full_unstemmed Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation
title_short Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation
title_sort lipoid congenital adrenal hyperplasia with a novel star gene mutation
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226314/
https://www.ncbi.nlm.nih.gov/pubmed/37255966
http://dx.doi.org/10.1177/11795514231167059
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