Turner’s Syndrome

Genetics
– Generally sporadic; no older maternal age seen
– Paternal chromosome more likely to be missing

Findings
– Small-stature female
-Gonadal dysgenesis
– Tendency to become obese
– Average IQ =90
– Decreased motor skills, incoordination
– Congenital lymphedema, residual puffiness over dorsum of fingers and toes
– Broad chest, wide-spaced nipples
– Low posterior hairline
– Webbed posterior neck
– Cubitus valgus (elbow)
– Horseshoe kidney, double renal pelvis
– Cardiac:
o Bicuspid aortic valve
o Coarctation
o Aortic stenosis, mitral valve prolapse
o Hypertension common, even without cardiac or renal disease.

Genetics/Dysmorphology
Gonadal dysgenesis is not evident in childhood, so chromosomal study is needed in any short stature female whose phenotype is compatible with Turner syndrome.
Also consider in any adolescent with absent breast development by 13 years of age, pubertal arrest, or primary/secondary amenorrhea with increased FSH.

Associated problem:
– Primary hypothyroidism.

Natural history
– Decreased height velocity with delayed bone age
– Estrogen treatment indicated at appropriate psychologic time
– Can increase height by 3-4 cm with growth hormone (GH) and anabolic steroids if bone age <13 years.