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Turner Syndrome

04 Jun 2025 • 1 min read

Genotype: XO

Phenotype: Female

Streak ovaries - No 2nd X chromosome (Menopause before menarche)
- Primary amenorrhea
- Lack of secondary sex characteristics
Has a uterus
- Absent in Mularian agenesis
Disruption of normal rib cartilage and bone development
- Short stature
- Shield chest
- Bicuspid aortic valve -> Increased risk for stenosis/calcification
- Aortic coarctation
Cystic hygroma
- Tumor causes a blockage of lymph drainage during development which causes a buildup of lymph
- The missing X chromosome can therefore disrupt the proper formation of lymphatic vessels
Webbed neck
- The webbed neck results from persistent lateral cervical folds or remnants of a regressed cystic hygroma. As these hygromas regress in utero, they leave behind redundant skin and soft tissue folds on the neck, creating the "webbed" appearance.
Horseshoe kidney
- The inferior poles of the developing kidneys may fuse in the midline, forming a horseshoe-shaped structure.
- This fused kidney gets trapped under the inferior mesenteric artery (IMA) during its ascent, preventing it from reaching the normal anatomical position.
- Due to the loss of X chromosome, there is a higher chance for errors in renal migration during development
Lymphedema
- maldevelopment or hypoplasia of major lymphatic channels
Melanocytic nevi