Turner Syndrome Flashcards
What causes Turner Syndrome?
50% XO
50% have mosaicism, or varied structural abnormalities of X or Y chromosome
(Chromosomal abnormalities often associated w spontaneous abortion 95-99% miscarried)
Can manifest as an X linked d/o
Name 4 neonatal features of Turner Syndrome
- SGA
- Neck webbing/loose skin folds
- Protruding ears
- Congenital lymphedema of the hands and feet
Name 7 facial features of children with Turner Syndrome
- Narrow maxilla
- Dental crowding
- Micrognathia
- Prominent ears
- High arched palata
- Low posterior hairline
- Webbed neck
Name 5 physical features of individuals with Turner Syndrome
- Broad chest with widely spaced nipples (inverted or hypoplastic)
- Wide carrying angle
- Short fourth metatarsal
- Lymphedema of hands/feet
- Hyperconvex nails
Name the 2 most common cardiac features in Turner Syndrome
- Bicuspid aortic valve
2. Coarctation of the aorta
Name 2 cognitive features of Turner Syndrome
Mainly normal intelligence BUT
Visuo-spatial problems and social immaturity
Name 2 common renal manifestations of Turner Syndrome
- Pelvic kidney
2. Horseshoe kidney
Name 5 endocrine features of Turner syndrome
- Short stature (GH IS indicated here)
- Autoimmune thyroid disease
- Ovarian dysgenesis (primary amenhorrhea, lack of secondary sex characteristics- “streak ovaries”
- Obesity
- Glucose intolerance
Name 4 other features of Turner Syndrome
- Scoliosis
- Congenital hip dysplasia
- Recurrent AOM causing conductive hearing loss, (also can get sensorineural loss too)
- Pigmented nevi
How do you diagnose Turner Syndrome?
- Karyotype: 45XO
PLUS use FISH to look for 46XY mosaicism
If Y chromosome identified laparoscopic gonadectomy recommended.
Name 3 general tx principles in Turner Syndrome
- GH indicated for growth velocity/short stature
- Estrogen replacement therapy for age-appropriate pubertal maturation, growth and bone health
- Cardiology assessment/follow up
