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TURNER SYNDROME (Symptoms (Short Stature, Non-functioning ovaries, Absence…
TURNER SYNDROME
Symptoms
Short Stature
Non-functioning ovaries
Absence of breast growth
Absence of menstruation
Frequent middle ear infections
Problems with math, memory, fine motor
Wide neck
Wide chest/nipple spacing
Arms that turn out at elbows
Heart murmur
High blood pressure
Minor eye problems
Scoliosis
Hypothyroidism
Osteoporosis
Treatment
Endocrinology
Growth hormone injections
Estrogen therapy
Progesterone therapy
Cardiology
ENT
Diagnosis
Can be made at birth due to heart problems
Due to wide neck / swelling of hands/feet
Can be diagnosed early due to slow growth
During pregnancy after amniocentesis
Determined by blood test (karyotype)
Genetics
1 of 2 X chromosomes missing or incomplete
Missing SHOX gene
1 in 2500 female births
Not typically inherited