Endocrine Abstracts

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...