2638.2 Stepwise Analysis
Linear growth failure and poor development of secondary sexual characteristics in an
adolescent raise the possibilities of chronic systemic illness, uncontrolled type 1
diabetes, multiple pituitary hormone deficiency, idiopathic growth hormone defi-
ciency, juvenile primary hypothyroidism, and childhood Cushing’s syndrome.
Further, a possibility of Turner syndrome should always be considered in a female
child who presents with short stature and delayed puberty. Though she did not have
any clinical evidence of chronic systemic disease, her weight was more compro-
mised than height (height age > weight age). However, relevant investigations to
exclude the systemic diseases were noncontributory. She had phenotypic abnormali-
ties like multiple pigmented nevi over face, low hairline, and cubitus valgus sugges-
tive of Turner syndrome which was further substantiated by high level of FSH and
karyotype [46Xi(X)(q10)]. Patients of Turner syndrome born-at-term usually (90 %)
have mean birth weight deficit of 600 g, and approximately 20 % of neonates have
low birth weight as well as low birth length(≤2SDS). The index patient had a birth
weight of 2.7 Kg which is within the normal limits. Mean height deficit in an adult
with Turner syndrome is approximately 20 cm, and this is contributed by progressive
cFig. 8.1 (continued)
8 Turner Syndrome