Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency
<strong>Background:</strong> congenital adrenal hyperplasia is the most frequent cause of sexual ambiguity in childhood. Molecular diagnosis is an element to be considered for the management and genetic counseling of patients and relatives at risk. <br /><strong>Objective:<...
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| Format: | Article |
| Language: | Spanish |
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Universidad de las Ciencias Médicas de Cienfuegos
2019-02-01
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| Series: | Revista Finlay |
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| Online Access: | http://www.revfinlay.sld.cu/index.php/finlay/article/view/685 |
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| author | Taimí Barrueta Ordóñez Teresa Collazo Mesa Paulina Lantigua Cruz Adrián de Jesús González Navarro Tania Espinosa Reyes |
| author_facet | Taimí Barrueta Ordóñez Teresa Collazo Mesa Paulina Lantigua Cruz Adrián de Jesús González Navarro Tania Espinosa Reyes |
| author_sort | Taimí Barrueta Ordóñez |
| collection | DOAJ |
| description | <strong>Background:</strong> congenital adrenal hyperplasia is the most frequent cause of sexual ambiguity in childhood. Molecular diagnosis is an element to be considered for the management and genetic counseling of patients and relatives at risk. <br /><strong>Objective:</strong> to identify the I172N mutation, to determine its frequency in the studied population and its possible relationship with the clinical phenotypes found. <br /><strong>Methods:</strong> a descriptive, cross-sectional study was conducted during the 2014-2016 period for Cuban patients diagnosed with congenital adrenal hyperplasia due to 21-OH insufficiency treated at the Institute of Endocrinology of Havana. The universe consisted of 32 patients. The variables analyzed were: age, social sex, age at diagnosis, clinical form of hyperplasia, diagnosis by screening program, family history, consanguinity, nonspecific neonatal death, genital crisis of the newborn, previous molecular diagnosis, mutations studied previously, mutation I172N gene CYP21A. The results were presented in tables or graphs as it was more feasible to show the information. <br /><strong>Results:</strong> the I172N mutation was identified in individuals of both sexes and its relation with the classic forms of the disease was established. In the studied population the three most frequent mutations of the researched ones, so far in the National Center of Medical Genetics of Havana to patients with congenital adrenal hyperplasia due to 21 OH insufficiency. <br /><strong>Conclusions:</strong> the standardized method proved to be reproducible and reliable for the molecular diagnosis of individuals with congenital adrenal hyperplasia due to 21-OH insufficiency. The I172N mutation is among the three most frequent in the studied Cuban population and is related to the classic forms of the disease. |
| first_indexed | 2024-04-12T17:31:43Z |
| format | Article |
| id | doaj.art-12562764cb864d3e852b146a318468c8 |
| institution | Directory Open Access Journal |
| issn | 2221-2434 |
| language | Spanish |
| last_indexed | 2024-04-12T17:31:43Z |
| publishDate | 2019-02-01 |
| publisher | Universidad de las Ciencias Médicas de Cienfuegos |
| record_format | Article |
| series | Revista Finlay |
| spelling | doaj.art-12562764cb864d3e852b146a318468c82022-12-22T03:23:06ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342019-02-01913645397Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase InsufficiencyTaimí Barrueta Ordóñez0Teresa Collazo Mesa1Paulina Lantigua Cruz2Adrián de Jesús González Navarro3Tania Espinosa Reyes4Centro Provincial de Genética Médica. Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Centro Nacional de Genética Médica. La Habana.Centro Nacional de Genética Médica. La Habana.Centro Nacional de Genética Médica. La Habana.Instituto de Endocrinología. La Habana.<strong>Background:</strong> congenital adrenal hyperplasia is the most frequent cause of sexual ambiguity in childhood. Molecular diagnosis is an element to be considered for the management and genetic counseling of patients and relatives at risk. <br /><strong>Objective:</strong> to identify the I172N mutation, to determine its frequency in the studied population and its possible relationship with the clinical phenotypes found. <br /><strong>Methods:</strong> a descriptive, cross-sectional study was conducted during the 2014-2016 period for Cuban patients diagnosed with congenital adrenal hyperplasia due to 21-OH insufficiency treated at the Institute of Endocrinology of Havana. The universe consisted of 32 patients. The variables analyzed were: age, social sex, age at diagnosis, clinical form of hyperplasia, diagnosis by screening program, family history, consanguinity, nonspecific neonatal death, genital crisis of the newborn, previous molecular diagnosis, mutations studied previously, mutation I172N gene CYP21A. The results were presented in tables or graphs as it was more feasible to show the information. <br /><strong>Results:</strong> the I172N mutation was identified in individuals of both sexes and its relation with the classic forms of the disease was established. In the studied population the three most frequent mutations of the researched ones, so far in the National Center of Medical Genetics of Havana to patients with congenital adrenal hyperplasia due to 21 OH insufficiency. <br /><strong>Conclusions:</strong> the standardized method proved to be reproducible and reliable for the molecular diagnosis of individuals with congenital adrenal hyperplasia due to 21-OH insufficiency. The I172N mutation is among the three most frequent in the studied Cuban population and is related to the classic forms of the disease.http://www.revfinlay.sld.cu/index.php/finlay/article/view/685hiperplasia suprarrenal congénitaanálisis mutacional de adnpatología molecularestudios transversalescuba |
| spellingShingle | Taimí Barrueta Ordóñez Teresa Collazo Mesa Paulina Lantigua Cruz Adrián de Jesús González Navarro Tania Espinosa Reyes Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency Revista Finlay hiperplasia suprarrenal congénita análisis mutacional de adn patología molecular estudios transversales cuba |
| title | Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency |
| title_full | Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency |
| title_fullStr | Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency |
| title_full_unstemmed | Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency |
| title_short | Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency |
| title_sort | detection of the i172n mutation in cuban patients with congenital adrenal hyperplasia due to 21 hydroxylase insufficiency |
| topic | hiperplasia suprarrenal congénita análisis mutacional de adn patología molecular estudios transversales cuba |
| url | http://www.revfinlay.sld.cu/index.php/finlay/article/view/685 |
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