Endocrine Abstracts

We present two families illustrating complex management issues introduced by mutational analysis in CAH.Family 1. A female index case presented at birth with ambiguous genitalia and was diagnosed with severe salt losing CAH. She is a compound heterozygote with two severe mutations: 659G (intron 2 splice site mutation) from her mother and CYP21 deletion from her father. Mother and mother's identical twin sister have compound heterozygosity for the mild mu...

Aim: There is emerging evidence that survivors of BMT not only suffer long term endocrine sequelae, but also have an increased risk of cardiovascular disease. The UKCCSG guidelines suggest that BMT survivors should be monitored for cardiac and lung toxicities of previous treatments using cardiac ECHOs and pulmonary function tests (PFTs). We aimed to examine body composition, aerobic fitness, ECHOs and PFTs in adolescent and young adult survivors on GHTx....

Background: There is emerging evidence that BMT survivors not only suffer long term endocrine sequelae, but also have increased risk of cardiovascular disease and T2DM. We examined body composition and cardiovascular and metabolic risk factors in adolescent and young adult survivors.Method: We enrolled 36 BMT survivors (20 male). Seven were pre-pubertal, 9 pubertal, and 20 post-pubertal. We measured body composition by DEXA scan and BMI, and fasted lipid...