New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.

Conclusions: This is a large study of the molecular genetics of CHH providing new genetic findings for this complex and heterogeneous genetic condition. NGS has been shown to be a fast, reliable and effective tool in the molecular diagnosis of congenital CHH and being able to targeting clinical genetic testing in the future.
PMID: 31200363 [PubMed - in process]

Source: European Journal of Endocrinology - June 15, 2019 Category: Endocrinology Authors: Amato LGL, Montenegro LR, Lerario AM, Jorge AAL, Guerra Junior G, Schnoll C, Renck AC, Trarbach EB, Costa EMF, Mendonca BB, Latronico AC, Silveira LFG Tags: Eur J Endocrinol Source Type: research