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ea0099p555 | Reproductive and Developmental Endocrinology | ECE2024

Klinefelter syndrome is associated with early-onset metabolic defects that are not reversed by testosterone therapy

Chouchane Karim , Hofbauer Susanna , Giordani Ilaria , nathalie vionnet , Barigou Mohammed , Pitteloud Nelly , Hauschild Michael , Papadakis Georgios

Background: Klinefelter syndrome (KFS) is the most common chromosomal aberration in men, characterized by an extra-X chromosome (47, XXY). Besides the well-known reproductive defects, KFS is characterized by a 4-fold increase in metabolic syndrome, cardiovascular morbidity and mortality. The exact cause of this constellation remains unclear.Methods: Data from non-mosaic KFS adults and adolescents, evaluated in the endocrine unit of Lausanne University Ho...

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ea0049gp153 | Neuroendocrinology & Growth Hormones | ECE2017

Evaluating CHARGE syndrome in CHD7-positive CHH patients: clinical implications

Xu Cheng , Cassatella Daniele , Sloot Almer van der , Hauschild Michael , Quinton Richard , De Geyter Christian , Fluck Christa , Feller Katrin , Bartholdi Deborah , Nemeth Attila , Halperin Irene , Djurdjevic Sandra Pekic , Papadakis Georgios , Dwyer Andrew , Marino Laura , Pignatelli Duarte , Huang Carol , Niederlander Nicolas , Acierno James , Pitteloud Nelly

Context: Congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome are clinically and genetically overlapping syndromes, with mutations in the CHD7 gene presenting in both disorders. However systematic evaluation of CHARGE features in CHD7-positive CHH patients is seldom performed.Objective: This study aims to systematically evaluate CHARGE features in CHD7-positive patients and explore the phenotype-genotype correlation.<p...

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Endocrine Abstracts

Klinefelter syndrome is associated with early-onset metabolic defects that are not reversed by testosterone therapy

Evaluating CHARGE syndrome in CHD7-positive CHH patients: clinical implications

BiosciAbstracts