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Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family
Congenital adrenal hyperplasia refers to a group of rare genetic disorders affecting the adrenal glands. 21-hydroxylase deficiency is the most prevalent and the most studied cause while the remaining enzymatic defects are less common, accounting for less than 10% of cases. We herein described the cl...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The African Field Epidemiology Network
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7908330/ https://www.ncbi.nlm.nih.gov/pubmed/33708317 http://dx.doi.org/10.11604/pamj.2020.36.226.24270 |
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author | Elfekih, Hamza Abdelkrim, Asma Ben Marzouk, Hajer Saad, Ghada Gribaa, Moez Hasni, Yosra Maaroufi, Amel |
author_facet | Elfekih, Hamza Abdelkrim, Asma Ben Marzouk, Hajer Saad, Ghada Gribaa, Moez Hasni, Yosra Maaroufi, Amel |
author_sort | Elfekih, Hamza |
collection | PubMed |
description | Congenital adrenal hyperplasia refers to a group of rare genetic disorders affecting the adrenal glands. 21-hydroxylase deficiency is the most prevalent and the most studied cause while the remaining enzymatic defects are less common, accounting for less than 10% of cases. We herein described the clinical, biological and molecular characteristics and outcome of patients of the same family diagnosed with 11-Beta-hydroxylase deficiency. The disorder was revealed by peripheral precocious puberty between the age of 2-3 years in males and by the virilization of the external genitalia in females. Genetics finding a homozygous p.Gly379Val mutation in the CYP11B1 gene. All patients received hydrocortisone supplementation therapy and mineralocorticoid-receptor antagonist. The females underwent a surgical correction of the ambiguous genitalia at the neonatal age. Long term follow-up revealed metabolic syndrome, obesity and hypertension in the first two patients, an impaired final height in the two females and hypokalemia in three patients. |
format | Online Article Text |
id | pubmed-7908330 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | The African Field Epidemiology Network |
record_format | MEDLINE/PubMed |
spelling | pubmed-79083302021-03-10 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family Elfekih, Hamza Abdelkrim, Asma Ben Marzouk, Hajer Saad, Ghada Gribaa, Moez Hasni, Yosra Maaroufi, Amel Pan Afr Med J Case Report Congenital adrenal hyperplasia refers to a group of rare genetic disorders affecting the adrenal glands. 21-hydroxylase deficiency is the most prevalent and the most studied cause while the remaining enzymatic defects are less common, accounting for less than 10% of cases. We herein described the clinical, biological and molecular characteristics and outcome of patients of the same family diagnosed with 11-Beta-hydroxylase deficiency. The disorder was revealed by peripheral precocious puberty between the age of 2-3 years in males and by the virilization of the external genitalia in females. Genetics finding a homozygous p.Gly379Val mutation in the CYP11B1 gene. All patients received hydrocortisone supplementation therapy and mineralocorticoid-receptor antagonist. The females underwent a surgical correction of the ambiguous genitalia at the neonatal age. Long term follow-up revealed metabolic syndrome, obesity and hypertension in the first two patients, an impaired final height in the two females and hypokalemia in three patients. The African Field Epidemiology Network 2020-07-28 /pmc/articles/PMC7908330/ /pubmed/33708317 http://dx.doi.org/10.11604/pamj.2020.36.226.24270 Text en Copyright: Hamza Elfekih et al. https://creativecommons.org/licenses/by/4.0 The Pan African Medical Journal (ISSN: 1937-8688). This is an Open Access article distributed under the terms of the Creative Commons Attribution International 4.0 License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Elfekih, Hamza Abdelkrim, Asma Ben Marzouk, Hajer Saad, Ghada Gribaa, Moez Hasni, Yosra Maaroufi, Amel Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family |
title | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family |
title_full | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family |
title_fullStr | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family |
title_full_unstemmed | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family |
title_short | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family |
title_sort | congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency in a tunisian family |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7908330/ https://www.ncbi.nlm.nih.gov/pubmed/33708317 http://dx.doi.org/10.11604/pamj.2020.36.226.24270 |
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