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Terapia farmacológica dirigida de genitales ambiguos debido a una mutación en el gen del receptor de andrógenos
Lancet (London, England)
|October 30, 1999
Resumen
Un bebé 46,XY con una mutación en el receptor de andrógenos experimentó genitales ambiguos. El tratamiento tópico con gel de dihidrotestosterona (DHT) restauró con éxito el desarrollo genital masculino, lo que permitió que el bebé fuera criado de acuerdo con su sexo cromosómico.
Área de la Ciencia:
- Endocrinología Endocrinología.
- Genética La genética.
- Biología del desarrollo Biología del desarrollo.
Sus antecedentes:
- Las mutaciones del receptor de andrógenos (AR) pueden causar trastornos del desarrollo sexual (DSD).
- La comprensión de la señalización AR es crucial para la gestión de DSD en 46,XY individuos.
Objetivo del estudio:
- Para reportar una nueva mutación M807T en el receptor de andrógenos.
- Para describir la presentación clínica y el manejo exitoso de un bebé 46,XY con esta mutación.
Principales métodos:
- Secuenciación genética para identificar la mutación del receptor de andrógenos.
- Evaluación clínica de los genitales externos.
- Terapia hormonal con dihidrotestosterona tópica (DHT) en gel.
Principales resultados:
- Se identificó una mutación M807T en el gen del receptor de andrógenos.
- La mutación afectó la respuesta celular a la testosterona pero no a la DHT.
- El tratamiento tópico con gel DHT condujo a una masculinización completa de los genitales externos.
Conclusiones:
- La mutación M807T causa una forma específica de insensibilidad parcial a los andrógenos.
- El diagnóstico precoz y la terapia dirigida con DHT pueden manejar eficazmente los genitales ambiguos en bebés 46,XY.
- Este caso pone de relieve el papel crítico de la función del receptor de andrógenos en la diferenciación sexual masculina.
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