Down syndrome (DS), the result of trisomy of chromosome 21, carries a suite of symptoms including intellectual disability and loss of olfaction. Manfredi-Lozano et al. recognized a similarity between some of the DS symptoms and those seen in patients with a deficiency of gonadotropin-releasing hormone (GnRH) (see the Perspective by Hoffmann). Indeed, analysis of a mouse model of DS showed deficits in GnRH expression. Interventions that restored physiological GnRH levels in the mouse DS model also improved cognitive deficits. In a preliminary clinical trial in patients affected by DS, pulsatile GnRH therapy improved cognition.
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Down syndrome (DS), the result of trisomy of chromosome 21, carries a suite of symptoms including intellectual disability and loss of olfaction. Manfredi-Lozano et al. recognized a similarity between some of the DS symptoms and those seen in patients with a deficiency of gonadotropin-releasing hormone (GnRH) (see the Perspective by Hoffmann). Indeed, analysis of a mouse model of DS showed deficits in GnRH expression. Interventions that restored physiological GnRH levels in the mouse DS model also improved cognitive deficits. In a preliminary clinical trial in patients affected by DS, pulsatile GnRH therapy improved cognition.