ea0049ep904 | Neuroendocrinology | ECE2017
Lecumberri Beatriz
, Rodriguez Francisco Javier
, Moreno Oscar
, Santiago Manuel de
, Nistal Manuel
, Vallespin Elena
, Campos Angel
, Heath Karen
Introduction: Recent studies suggest that some patients initially diagnosed with congenital hypogonadotropic hypogonadism (CHH), may evolve towards a combined pituitary hormonal deficiency (CPHD). Heterozygous pathogenic CHD7 variants impair neural cell crest guidance causing CHARGE syndrome and have been associated with abnormal pituitary development/function/structure and isolated CHARGE features, including HH. We aimed to genotype CHD7 and phenotype thoroughly those adult p...