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DESIGN: We analyzed the clinical characteristics of 37 Serbian CHH probands (34 sporadic, 3 familial). Genetic testings are available in 15 patients (Pitteloud, Switzerland; Tuttelmann, Germany; Bernard, Canada). Prof Pitteloud group: Genetic analyses of probands were conducted using Sanger (n=4) and exome sequencing (n=11). Rare variants (minor allele frequency <1%) were considered mutations if they were nonsense, frameshift, splice-site-altering variants or missense variants predicted to be deleterious in silico. CONCLUSION: This CHH cohort displays marked clinical heterogeneity including patients with 4H syndrome, CHARGE syndrome and congenital adrenal hypoplasia. We identified mutations in the majority (80%) of cases and those patients without mutations did not exhibit any CHHassociated phenotypes. Exome sequencing is an efficient and effective tool for exploring the complex genetic architecture of CHH.

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