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Inicio Endocrinología y Nutrición Déficit de 21-hidroxilasa: aspectos actuales
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Vol. 53. Núm. 2.
Páginas 124-136 (Febrero 2006)
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Vol. 53. Núm. 2.
Páginas 124-136 (Febrero 2006)
Curso de formación continuada en endocrinología y nutrición
Acceso a texto completo
Déficit de 21-hidroxilasa: aspectos actuales
21-Hydroxylase deficiency: current aspects
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M.D. Rodríguez-Arnaoa,??
Autor para correspondencia
mrodrigueza.hgugm@salud.madrid.org

Correspondencia: Dr. M.D. Rodríguez-Arnao. Unidad de Metabolismo y Desarrollo. Departamento de Pediatría. Hospital General Universitario Gregorio Marañón. Dr. Esquerdo, 46. 28007 Madrid. España.
, A. Rodrígueza, K. Badilloa, A. Velascoa, E. Dulínb, B. Ezquietac
a Unidad de Metabolismo y Desarrollo. Departamento de Pediatría. Hospital General Universitario Gregorio Marañón. Madrid. España
b Laboratorios de Metabolopatías. Servicio de Bioquímica. Hospital General Universitario Gregorio Marañón. Madrid. España
c Diagnóstico Molecular. Servicio de Bioquímica. Hospital General Universitario Gregorio Marañón. Madrid. España
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La hiperplasia suprarrenal congénita (HSC) es una de las alteraciones autosómicas recesivas más frecuentes. Caracterizada por un defecto enzimático en la síntesis de cortisol, la causa es, en el 95% de los casos, la deficiencia de la enzima 21-hidroxilasa (21-OH). La 17-OH progesterona, precursor del cortisol, presenta valores elevados, marcadores del diagnóstico. Esta enfermedad presenta diferentes formas clínicas; las clásicas o graves comienzan desde el período neonatal, con síntomas debidos al exceso de andrógenos suprarrenales como virilización y ambigüedad de los genitales externos de las niñas afectadas. En más del 70% de los casos se asocia pérdida salina (deficiencia de aldosterona), potencialmente letal en varones que no se diagnostican precozmente. Resumimos las diferentes formas de presentación de la deficiencia de 21- OH, y describimos el diagnóstico y el tratamiento con gluco y mineralcorticoides, con especial énfasis en la importancia de utilizar dosis de estrés de hidrocortisona, cuando es necesario. Los avances quirúrgicos actuales ofrecen una corrección funcional de las pacientes afectadas. Los programas de detección precoz evitan la asignación incorrecta de sexo en la recién nacida y pueden salvar la vida de los varones con formas graves y pérdida salina. Comentamos el diagnóstico genético-molecular del CYP21A2 (cromosoma 6p 21.3) y las características en la población española. Revisamos las directrices futuras para el estudio y el tratamiento de esta enfermedad, incluyendo diversos tratamientos como la flutamida, la hormona de crecimiento, los antagonistas de las gonadotropinas o la relación con el síndrome de ovario poliquístico. El diagnóstico y el tratamiento prenatales del feto femenino afectado son posibles, y los resultados son alentadores. Comentamos, también, el abordaje hacia la transición y la edad adulta, y la relevancia del control de la mujer con HAC durante la gestación.

Palabras clave:
Hiperplasia suprarrenal congénita
17-OH progesterona
Deficiencia 21-hidroxilasa
Genitales ambiguos
Genética molecular CYP21A2
Cribado neonatal hiperplasia suprarrenal congénita
Diagnóstico
tratamiento y tratamiento prenatal deficiencia 21-hidroxilasa

Congenital adrenal hyperplasia (CAH) is one of the most frequent autosomal recessive disorders. It is characterized by a deficiency of an enzyme involved in cortisol synthesis and in 95% of patients the cause is 21-hydroxylase deficiency. A diagnostic marker is elevated levels of 17- hydroxyprogesterone, a precursor of cortisol. CAH has several clinical forms, and classical or severe forms manifest in the neonatal period with symptoms due to excess adrenal androgen production such as virilization and ambiguity of the external genitalia in affected girls. In more than 70% of patients, there is associated salt wasting (aldosterone deficiency), which can be fatal in males without an early diagnosis. We summarize the various forms of presentation of 21-hydroxylase deficiency and describe diagnosis and treatment with gluco- and mineralocorticoids, with special emphasis on the importance of using stress doses of hydrocortisone when necessary. Current surgical advances provide functional correction in affected patients. Screening programs avoid incorrect sex assignment in the newborn and can save the lives of males with severe forms and salt wasting. We discuss the genetic-molecular diagnosis of CYP21A2 (chromosome 6p 21.3) and its characteristics in the Spanish population. We review future recommendations for the study and management of this disease, including several treatments such as flutamide, growth hormone, and gonadotrophin antagonists, as well as the association with polycystic ovary syndrome. Prenatal diagnosis and treatment in affected female fetuses are feasible and the results are encouraging. We also discuss the management of the transition to adulthood and the importance of follow-up of women with CAH during pregnancy.

Key words:
17-hydroxyprogesterone
21-hydroxylase deficiency
Ambiguous genitalia
Molecular genetic CYP21A2
Neonatal screening for congenital adrenal hyperplasia
Diagnosis
treatment
prenatal treatment of 21-hydroxylase deficiency
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