45 X

Incidence

 * 1/2,500 females

Molecular Etiology

 * 50% 45,X
 * Paternal Meiosis Error = 75%


 * 10-20% mosaic
 * 10-20% isochromosome X

Associated Birth Defects

 * Cardiac Defects = 30%
 * coarctation of the aorta
 * hypoplastic left heart
 * risk for aortic dissection


 * Renal Defects = 30%
 * horseshoe kidney


 * Ovarian Dysgenesis = 90%<

Extremities

 * lymphedema of dorsum of feet/hands

Musculoskeletal

 * webbed neck
 * shield chest
 * widely spaced nipples
 * increased carrying angle

Endocrine/Growth

 * short stature
 * Absent pubertal development
 * Infertility
 * Primary Ovarian Failure in 45,X/46,XX females

Neurological

 * Learning Disabilities = visual, spatial, coordination

Cardiovascular

 * hypertension
 * aortic root dilation

Immunity

 * Autoimmune Disease

Skin

 * pigmented nevi

Malignancies

 * 45,X/46,XY Mosaicism = gonadoblastoma in early childhood

Prognosis

 * Normal IQ
 * Normal Lifespan
 * 99.9% of 45, X embryos will miscarry

Recurrence Risk

 * General Population