Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep1090 | Clinical case reports - Thyroid/Others | ECE2017

A rare cause of a 46, XY disorder of sex development diagnosed in an adult patient

Feller Katrin , Fluck Christa , Audi Laura , Fernandez-Cancio Monica , Stettler Christoph

The defective conversion of testosterone to dihydrotestosterone due to a steroid 5-alpha-reductase 2 deficiency results in a unique form of 46, XY disorder of sexual development (DSD). Dihydrotestosterone is essential for the embryonic differentiation of the external male genitalia and the prostate. Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder in which genetic males have a predominantly female phenotype with female external genitalia but male inter...

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...