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decline in growth during intrauterine period, childhood phase, and peripubertal
period. Seventy percent of height deficit occurs during prepubertal period and the
rest during peripubertal period due to absence of estrogen-mediated growth spurt.
Therefore, patients with Turner syndrome have maximum height deficit at the age of
14 years followed by modest increase in height due to delayed epiphyseal fusion.
The growth failure is an essential feature of Turner syndrome and occurs due to
SHOX haploinsufficiency and estrogen deficiency. SHOX haploinsufficiency is asso-
ciated with chondrocyte resistance to GH-IGF1 at epiphyseal growth plate and pres-
ence of estrogen is required not only for growth in peripubertal period (by promoting
GH-IGF1 surge) but also during prepubertal period, as prepubertal ovary also pro-
duces a small amount of estrogen and promotes IGF 1 generation. In addition, 10 %
of children with Turner syndrome have concurrent GH deficiency. The index patient
had a height SDS of −5.5 on CDC growth chart and −2.2 SDS on Turner-specific
growth chart. Estimation of height-deficit on CDC growth chart helps to detect the
growth faltering at an early age and allows timely initiation of rhGH therapy.
However, growth faltering on Turner-specific growth chart suggests the concurrent
presence of other growth-related disorders like celiac disease, primary hypothyroid-
ism, and GH deficiency. Patient was subjected to additional workup for abovemen-
tioned disorders and they were essentially normal. The classical phenotypic features
of Turner during infancy are lymphedema, cystic hygroma, webbed neck, coarctation
of aorta, and partial anomalous pulmonary venous connections. During childhood
and adolescence growth failure, hearing defect, delayed puberty and skeletal anoma-
lies are the presenting features. Lymphedema in infancy is due to maldevelopment of
lymphatics as a result of X-chromosome haploinsufficiency. The cardiac manifesta-
tions (coarctation of aorta 11 % and bicuspid aortic valve 16 %) may be a result of
compression of cardiovascular outflow tract by fetal cystic hygroma, which occurs
due to jugular lymphatic obstruction or it may be a direct consequence of
X-chromosome haploinsufficiency. Baseline 2D echocardiography should be per-
formed in all patients with diagnosis of Turner syndrome, and cardiac MRI is recom-
mended whenever the child is able to tolerate it without sedation. If the baseline
cardiac evaluation is normal, then monitoring with echocardiography is recom-
mended at five-year intervals. Further, cardiac evaluation is advised in patients with
Turner syndrome during peripubertal period, before contemplating pregnancy, and
when they develop hypertension. Resolution of cystic hygroma during late gestation
due to opening up of jugular lymphatics manifest later as webbed neck. Skeletal
anomalies associated with Turner syndrome include short neck, shield chest, cubitus
valgus, short fourth and fifth metacarpal and metatarsals, Madelung deformity, and
kyphoscoliosis. These abnormalities are not present at birth, but evolve during child-
hood and are the result of SHOX haploinsufficiency. Ocular manifestations include
strabismus, hypermetropia, epicanthal folds, pseudo-ptosis, telecanthus, upward
slanting of palpebral fissures, red-green color blindness, and rarely nystagmus. Our
patient had nystagmus in primary gaze; however, the cause of nystagmus is not
known in patients with Turner syndrome. Renal abnormalities in patients with Turner
syndrome include horseshoe kidney (20–50 %), duplication of renal pelvis, renal
dysplasia, and ectopic kidney. Karyotype of the index patient confirmed the diagno-
sis of Turner syndrome 46Xi(X)(q10) (isochromosome). Fifty percent of patients