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Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review
Congenital adrenal hyperplasia (CAH) is an uncommon condition and 11β-hydroxylase deficiency (11βOHD) accounts for 0.2-8% of cases. In this study, we report a three-year-old girl with a known diagnosis of classical CAH on maintenance treatment with hydrocortisone who presented with abnormal genitali...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788930/ https://www.ncbi.nlm.nih.gov/pubmed/35106260 http://dx.doi.org/10.7759/cureus.21537 |
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author | Alsanea, Mohammad N Al-Agha, Abdulmoein Shazly, Mohamed Abdelmaksoud |
author_facet | Alsanea, Mohammad N Al-Agha, Abdulmoein Shazly, Mohamed Abdelmaksoud |
author_sort | Alsanea, Mohammad N |
collection | PubMed |
description | Congenital adrenal hyperplasia (CAH) is an uncommon condition and 11β-hydroxylase deficiency (11βOHD) accounts for 0.2-8% of cases. In this study, we report a three-year-old girl with a known diagnosis of classical CAH on maintenance treatment with hydrocortisone who presented with abnormal genitalia and persistent hypertension. Genetic testing confirmed the diagnosis of autosomal recessive CAH due to 11βOHD as a result of a novel homozygous pathogenic mutation, c.53dup p.(Gln19Alafs*21), in the CYP11B1 gene. Physicians should consider the possibility of classical 11βOHD in CAH patients presenting with persistent hypertension, even if other laboratory biomarkers are equivocal. |
format | Online Article Text |
id | pubmed-8788930 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-87889302022-01-31 Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review Alsanea, Mohammad N Al-Agha, Abdulmoein Shazly, Mohamed Abdelmaksoud Cureus Endocrinology/Diabetes/Metabolism Congenital adrenal hyperplasia (CAH) is an uncommon condition and 11β-hydroxylase deficiency (11βOHD) accounts for 0.2-8% of cases. In this study, we report a three-year-old girl with a known diagnosis of classical CAH on maintenance treatment with hydrocortisone who presented with abnormal genitalia and persistent hypertension. Genetic testing confirmed the diagnosis of autosomal recessive CAH due to 11βOHD as a result of a novel homozygous pathogenic mutation, c.53dup p.(Gln19Alafs*21), in the CYP11B1 gene. Physicians should consider the possibility of classical 11βOHD in CAH patients presenting with persistent hypertension, even if other laboratory biomarkers are equivocal. Cureus 2022-01-23 /pmc/articles/PMC8788930/ /pubmed/35106260 http://dx.doi.org/10.7759/cureus.21537 Text en Copyright © 2022, Alsanea et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Endocrinology/Diabetes/Metabolism Alsanea, Mohammad N Al-Agha, Abdulmoein Shazly, Mohamed Abdelmaksoud Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review |
title | Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review |
title_full | Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review |
title_fullStr | Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review |
title_full_unstemmed | Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review |
title_short | Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review |
title_sort | classical 11β-hydroxylase deficiency caused by a novel homozygous mutation: a case study and literature review |
topic | Endocrinology/Diabetes/Metabolism |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788930/ https://www.ncbi.nlm.nih.gov/pubmed/35106260 http://dx.doi.org/10.7759/cureus.21537 |
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