Searchable abstracts of presentations at key conferences in endocrinology

ea0097027 | Section | BES2023

Two family members with partial hypopituitarism and gingival fibromatosis caused by a missense mutation in KCNQ1

A Sabbe , Block C De , F Eyskens , Rademaecker M De , Herdt C De

Background: Childhood growth hormone deficiency (GHD) is a clinically heterogeneous condition and may have a genetic basis. Association with abnormalities of eyes, ears, palate and other parts of the forebrain or familial occurrence of GHD suggest a genetic cause (1). The occurrence of childhood GHD in association with gingival fibromatosis led to the identification of two autosomal dominant KCNQ1 missense variants (Arg116Leu and Pro369Leu). KCNQ1 gene encodes...