Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction

CONCLUSION: Our data define a syndromic autonomous ovarian puberty likely due to the activating allele p.(E486D) in GUCY1A2 leading to an increase in cGMP. The overlap with the ovarian symptoms of McCune-Albright syndrome suggests an impact of this cGMP increase on the cAMP pathway in the ovary. Additional cases will be needed to ensure a causal link.PMID:38578777 | DOI:10.1093/ejendo/lvae030

Source: European Journal of Endocrinology - April 5, 2024 Category: Endocrinology Authors: Theresa Wittrien Alban Ziegler Anne R ühle Svenja Stomberg Ruben Meyer Dominique Bonneau Patrice Rodien Delphine Prunier-Mirebeau R égis Coutant S önke Behrends Source Type: research