Turner Syndrome
| Headline | |
|---|---|
| Etiology | XO monosomy/mosiac ⇒ can develop other X-linked recessive conditions! |
| Epidemiology | 1 in 2000 live female births. Risk factors: ↑ maternal age |
| Clinical presentation | short stature, broad chest, primary amenorrhea, delayed puberty, ptosis, webbed neck, deafness Ddx: coarctation of aorta , bicuspid aortic valve, gonad dysgenesis (⇒ hypogonadotropic hypogonadism), Crohn's disease, cubitus valgus |
| Pathogenesis | |
| Diagnostic investigations | |
| Management | Complications: |
| Prevention |