A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1



: Rivero-Müller A, Potorac I, Pintiaux A, Daly AF, Thiry A, Rydlewski C, Nisolle M, Parent AS, Huhtaniemi I, Beckers A

Publisher: BIOSCIENTIFICA LTD

: 2015

: European Journal of Endocrinology

: EUROPEAN JOURNAL OF ENDOCRINOLOGY

: EUR J ENDOCRINOL

: 172

: 6

: K27

: K36

: 10

: 0804-4643

: 1479-683X

DOI: https://doi.org/10.1530/EJE-14-1095


Conclusions: This novel LHCGR mutation leads to complete inactivation of the LHCGR receptor due to trafficking and signalling abnormalities, which improves our understanding of the impact of the affected structural domain on receptor trafficking and function.




Last updated on 2024-26-11 at 20:53