Overview
Introduction
- Monosomy resulting from
- nondisjuction (XO)
- mosaicism (XX, XO; XY, XO)
- only monosomy not aborted in utero
- no Barr bodies
- Leads to abnormal sexual differentiation with
- primary amenorrhea
- streak gonads
- menopause before menarche
- infertility
- delayed sexual maturation
- normal intellegence
- Pathogenesis
- ↓ estradiol leads to ↑ FSH and LH
- normal GH and insulin-like growth factor
Presentation
- Physical exam
- short stature
- webbed neck
- shield chest
- wrist and ankle edema
- both edema and webbed neck a result of malformed lymphatic vasculature
Prognosis, Prevention, and Complications
- Increased risk for
- gonadal blastoma (specifically XY, XO mosaics, as Y chromosome increases risk of tumor formation in dysgenic gonads)
- preductal coarctation of aorta and bicuspid aortic valve
- dysgerminoma ovarian tumor
- horseshoe kidney
- decreased fertility
