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GENETICA Y PRESENTACION DE LA DEFICIENCIA DE 21-HIDROXILASA

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La deficiencia de 21-hidroxilasa es una de las enfermedades hereditarias autosómicas recesivas más comunes en los seres humanos. En el presente artículo se describen su incidencia, clasificación, fisiopatología, genética molecular, diagnóstico y fenotipo.
trakakis9.jpg Autor:
Eftihios Trakakis
Columnista Experto de SIIC
Artículos publicados por Eftihios Trakakis
Coautores
George Simeonides* Vassilis Vaggopoulos* Demetrios Laggas** Charalambos Chrelias** George Labos* Demetrios Kassanos*** 
Researcher, University of Athens, Atenas, Grecia*
Lecture, University of Athens, Atenas, Grecia**
Associate Professor, University of Athens, Atenas, Grecia***
Recepción del artículo
18 de Febrero, 2007 		Aprobación
23 de Abril, 2007
Primera edición
25 de Septiembre, 2007 		Segunda edición, ampliada y corregida
7 de Junio, 2021

GENETICA Y PRESENTACION DE LA DEFICIENCIA DE 21-HIDROXILASA

Resumen
La hiperplasia suprarrenal congénita debida a una deficiencia de la enzima 21-hidroxilasa (21-OH) se distingue en sus formas clásica y no clásica y también es una de las enfermedades hereditarias autonómicas recesivas más frecuentes de los seres humanos. La forma clásica se presenta con una tasa de 1:5 000 a 1:15 000 entre los recién nacidos vivos de Estados Unidos y Europa, mientras que la forma no clásica se presenta normalmente en el 0.2% de la población blanca general. Tres alelos se asocian con el locus de 21-OH y pueden combinarse de distintas formas en los individuos que no están afectados, aquellos que son portadores heterocigotas o los que están afectados por la enfermedad clásica o no clásica. Los signos y síntomas variables de hiperandrogenismo son comunes a ambos tipos de trastornos. Los adelantos importantes en biología molecular y análisis genético de las últimas dos décadas han conducido a la creación de nuevos métodos sensibles para el análisis y el estudio del ADN, como la reacción en cadena de la polimerasa y el análisis por Southern blot. Por lo tanto, se ha descubierto que la síntesis de 21-OH está controlada por dos genes, el gen CYP21B activo y seudogén CYP21A. Las tres formas de la enfermedad tienen una secuencia conocida de cambios genéticos debidos a mutaciones en proteínas aisladas o series completas de genes a causa de translocaciones o deleciones de material genético.

Palabras clave
hiperplasia suprarrenal congénita, deficiencia de 21-hidroxilasa, genética, presentación clínica


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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Current Concepts

Abstract
Congenital adrenal hyperplasia due to deficiency of the enzyme 21-hydroxylase (21-OH), is distinguished in its classical and non-classical form and it is also one of the most common autosomal recessive inherited diseases in humans. The classical form appears in a rate between 1:5,000 and 1:15,000 among the live neonates of North America and Europe while the non-classical form occurs in approximately 0.2 percent of the general white populations. Three alleles are associated with the 21-OH locus and can be combined in various ways to individuals who are either unaffected, heterozygote carriers, or affected with classical or nonclassical disease. Variable signs and symptoms of hyperandrogenism are common to both types of the disorder. The significant advances in molecular biology and gene analysis over the past two decades have led to the development of novel sensitive methods of DNA analysis and study, such as polymerase chain reaction and southern blot analysis. Thus it has been revealed that the synthesis of 21-OH is controlled by two genes, the active CYP21B gene and the CYP21A pseudogene. All three forms of the disease have a known sequence of gene changes owing to mutations in isolated proteins or whole series of genes owing to translocations or deletions of genetic material.

Key words
congenital adrenal hyperplasia, genetics, clinical presentation, 21-hydroxylase defficiency


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Especialidades
Principal: Endocrinología y Metabolismo
Relacionadas: Bioquímica, Genética Humana, Medicina Interna



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Enviar correspondencia a:
Eftihios Trakakis, National School Public Health, University of Athens , 15772, Maikina 41 Zografos, Atenas, Grecia
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