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Científicos identifican gen responsable del inicio precoz de la pubertad
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Científicos identifican gen responsable del inicio precoz de la pubertad

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Científicos identifican gen responsable del inicio precoz de la pubertad

Los científicos afirman haber identificado una mutación genética responsable de una afección que hace que los niños pasen por la pubertad antes de los 9 años de edad.

La afección, conocida como pubertad precoz central, parece ser heredada a través de un gen que transmiten los papás, señalan los investigadores en un informe que aparece en la revista New England Journal of Medicine (doi:10.1056/NEJMoa1302160).

Además de ayudar a los niños que tienen pubertad precoz central, "estos hallazgos abrirán la puerta a una nueva comprensión de lo que controla el momento de la pubertad" en general, apuntó en un comunicado de prensa del Hospital Brigham and Women's la autora coprincipal del estudio, la Dra. Ursula Kaiser, jefa de la división de endocrinología, diabetes e hipertensión del hospital, en Boston.

Según los autores, la mutación lleva al inicio de la pubertad antes de los 8 años en las chicas y antes de los 9 en los chicos. Esto es antes del inicio típico de la pubertad, que en las chicas se inicia entre los 8 y los 13 y en los chicos entre los 9 y los 14.

El estudio incluyó análisis genéticos de 40 personas de 15 familias con antecedentes de pubertad precoz. En cinco de las quince familias, los investigadores descubrieron cuatro mutaciones del gen MKRN3. Una mutación del gen MKRN3 puede llevar a la activación prematura de las hormonas reproductivas y desencadenar una pubertad precoz, explicaron los autores del estudio en el comunicado de prensa.

Todas las personas con las mutaciones MKRN3 las heredaron de sus papás.

Una experta que revisó la investigación dijo que el hallazgo seguramente represente un gran avance para los niños con pubertad precoz central.

Evaluar la mutación MKRN3 en los niños "podría ayudar en el diagnóstico, previniendo el uso de pruebas y procedimientos extensivos como una IRM de la cabeza", explicó la Dra. Patricia Vuguin, endocrinóloga pediátrica del Centro Médico pediátrico Steven & Alexandra Cohen de Nueva York, en New Hyde Park, Nueva York.

Apuntó que unas mejores pruebas diagnósticas ayudarían a detectar a los pacientes en riesgo de pubertad precoz y los problemas que ésta conlleva, como una estatura baja, problemas psicológicos y otros posibles problemas de salud. De forma más general, "el diagnóstico también ayudará a comprender el rol de este gen y otros genes asociados en cómo y cuándo los niños pasan por la pubertad, un área que actualmente no está clara", aseguró Vuguin.

Los hallazgos también serán presentados en la reunión anual de la Sociedad Endocrina (Endocrine Society).

junio 5/2013 (Medlineplus),

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