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Síndrome de Kallmann. Aspectos genéticos y variantes fenotípicas
Resumen
El síndrome de Kallmann se caracteriza por la combinación de hipogonadismo hipogonadotrópico y anosmia/hiposmia. El hipogonadismo hipogonadotrópico se debe a la deficiencia de la hormona liberadora de gonadotropinas ocasionada por un defecto en la migración de las neuronas sintetizadoras de la hormona liberadora de gonadotropinas, y la anosmia/hiposmia está relacionada con ausencia o hipoplasia del bulbo olfatorio y sus tractos. Algunos pacientes pueden presentar otras anormalidades como agenesia renal, paladar hendido, agenesia dental, sinquinesia refleja, acortamiento de metacarpianos, hipoacusia neurosensorial y convulsiones. Se presenta una revisión de las características clínicas y bases moleculares, donde se resalta la relevancia del conocimiento de variantes fenotípicas en síndrome de Kallmann.
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