hrp0086fc12.5 | Neuroendocrinology | ESPE2016
Gonzalez-Briceno Laura
, Sonnet Emmanuel
, Guimiot Fabien
, Laquerriere Annie
, Kerlan Veronique
, Salem Douraied Ben
, Gunczler Peter
, de Roux Nicolas
Background: Mirror movements (MM) are frequently associated to Kallmann syndrome (KS). They are mainly observed in patients with ANOS1 (KAL1) mutations. MM have never been reported in ANOS1 mutated females. A defect in the contralateral inhibition of the pyramidal tract has been proposed as the mechanism of MM in KS but never demonstrated.Objective and hypotheses: To investigate the molecular mechanism of a familial case of gonadotropic deficiency in whi...