GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism

Abstract

This study further expands the spectrum of known genetic defects associated with nCHH. Although <i>GNRHR</i> mutations are usually biallelic and inherited in an autosomal recessive manner, the presence of a monoallelic mutation in a patient should raise the possibility of a digenic/oligogenic cause of nCHH.