277- What are the causes of short stature in patients with Turner syndrome?
Approximately two-third of the height deficit in patients with TS is contributed
by SHOX haploinsufficiency, as two copies of SHOX gene are required for
chondro-osteogenesis and normal linear growth. Other putative genes in the X
chromosome are implicated for rest of the height deficit. In addition, lack of
estrogen during prepubertal period also contributes to height deficit, as prepu-
bertal ovary too secretes a small amount of estrogen which has growth-
promoting effect. Further, coexisting disorders like celiac disease and
autoimmune thyroid disease can also contribute to short stature and should be
suspected when girls with TS falter on TS-specific growth charts.Fig. 8.9 A 16-year-old
girl with classical Turner
syndrome. Note the
webbing of the neck and
cubitus valgus
8 Turner Syndrome