Abstract Search

ea0041ep735 | Neuroendocrinology | ECE2016

Phenotype-genotype analysis in patients with GnRH deficiency in a single center

Djurdjevic Sandra Pekic , Xu Cheng , Dwyer Andrew , Cassatella Daniele , Doknic Mirjana , Miljic Dragana , Stojanovic Marko , Petakov Milan , Pitteloud Nelly , Popovic Vera

Objective: Congenital hypogonadotropic hypogonadism (CHH) results from isolated GnRH deficiency and may present with normal sense of smell (nCHH), anosmia (Kallmann syndrome, KS) or in syndromic forms. Genetic defects are identified in approximately half of CHH cases and oligogenicity is noted in almost 10%. Further, spontaneous reversal of is seen in 15% of patients.Methods: We analyzed the clinical characteristics of 37 Serbian CHH probands (34 sporadi...

0 shares

ePoster

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...

0 shares

Endocrine Abstracts

Phenotype-genotype analysis in patients with GnRH deficiency in a single center

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

BiosciAbstracts