MedLecturesMadeEasy's video: Turner syndrome mechanism of disease

This is a flowchart on Turner syndrome, covering the etiology, pathophysiology, manifestations, and pharmacology/interventions. ADDITIONAL TAGS: Horseshoe kidneys Risk factors / SDOH Cell / tissue damage Hormonal imbalance Turner syndrome Medicine / procedure Infectious / microbial Biochem / molecular bio Other medical conditions Signs / symptoms Tests / imaging / labs Embryology / development Genetics / hereditary Neurocog / psychiatry Pathophysiology + Pharmacology Etiology Manifestations Partially or completely missing an X chromosome Sporadic nondisjunction of sex chromosomes during parental gamete meiosis → complete chromosomal monosomy Karyotype: 45,XO / 46,XX Sporadic nondisjunction of sex chromosomes during embryonic cell mitosis → sex chromosomal mosaicism Karyotype: 45,XO (no Barr body) Milder phenotype Impaired ovarian development Malfunctioning streak gonads with connective tissue replacing normal germ cells ↑ risk of X-linked recessive conditions Low hairline (prominently in posterior) Low-set ears Small lower jaw; high arched palate Wide, web-like neck; cystic hygroma Shield-shaped chest Aortic coarctation / dissection → rupture Broad chest, wide-spaced nipples Cubitus valgus Renal malformations: horseshoe kidneys, renal agenesis Short fingers and toes; nail dysplasia Pregnancy ↓ estrogen; ↓ progesterone Bicuspid aortic valve One SHOX gene (on X chromosome) → short stature ↑ FSH, ↑ LH Hashimoto thyroiditis Type 2 diabetes mellitus Osteoporosis → pathologic fractures Delayed puberty Primary amenorrhea Infertility (except in IVF) Sküskü15, CC BY-SA 4.0 https://creativecommons.org/licenses/by-sa/4.0, via Wikimedia Commons Estrogen and progesterone substitution Surgical removal of streak gonads Growth hormone therapy