GNRH1 Variants in Congenital Hypogonadotropic Hypogonadism: Single-center experience and Systematic Literature Review

Conclusion(s): GNRH1 biallelic variants lead to severe reproductive phenotype, with low gonadotropin levels without non-reproductive features or oligogenicity. However, the role of GNRH1 monoallelic variants in CHH pathophysiology for reported variants remains questionable.
Source: Neuroendocrinology - Category: Endocrinology Source Type: research