Turner syndrome — branching viva

Opening framework

My framework has four layers. First, the diagnosis — Turner syndrome is the complete or partial loss of one X chromosome in a phenotypic female, confirmed by a peripheral blood karyotype, and the presentation is age-dependent: cystic hygroma in the fetus, lymphoedema in the newborn, short stature in the child, and delayed puberty in the adolescent. Second, the mechanism — haploinsufficiency of genes that escape X-inactivation, chief among them SHOX on Xp, which builds the skeleton, and the lymphogenic genes, which build the neck. Third, the management — growth hormone for stature, timed oestrogen for puberty and bone, cardiovascular surveillance for the aorta, and psychosocial and reproductive support. Fourth, the lifespan — the transition to adult care and the pregnancy aortic-dissection risk, which are where the preventable deaths occur. ^{[1] [2]}