PMON190 Characterization Of Lymphedema With Respect To Phenotype and Karyotype in Patients With Turner Syndrome

Abstract

Abstract We characterize karyotypic and phenotypic features of a cohort of patients with Turner syndrome (TS) and lymphedema (LD). Medical records from two large TS specialized pediatric clinics were reviewed retrospectively. Seventy-one patients with TS and history of LD were identified, mean age 15.9 ± 7.71 years. Reported LD onset was in infancy in 72% of patients, with 56% (40/71) reporting LD present at birth. LD affected hands in 29% of patients, feet in 57%, and both hands and feet in 25%. 46% reported LD was a current problem, with 11% stating it was present but not a problem. 73% (52/71) of children in this cohort had the 45,X karyotype. The remainder had mosaic/complex karyotypes. 55% of children had congenital heart disease and 10% had renal anomalies. 76% were on growth hormone treatment, 52% had a history of estrogen replacement. Lymphedema is a frequently under-documented comorbidity in Turner syndrome, with limited data currently available. Analysis of a larger cohort comparing patients with TS with and without LD is underway including the role of growth hormone and estrogen replacement in LD. Given that new therapies are being developed for LD in other genetic conditions, a better understanding of LD in Turner syndrome is important for management considerations. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.