© Springer India 2016 261
A. Bhansali et al., Clinical Rounds in Endocrinology,
DOI 10.1007/978-81-322-2815-8_8
8
Turner Syndrome
8.1 Case Vignette
A 15-year-old female presented with growth failure and poor development of second-
ary sexual characteristics. She was born of a non-consanguineous marriage by normal
vaginal delivery at term with birth weight of 2.7 Kg. Her neonatal period was unevent-
ful and she did not have history of prolonged physiological jaundice or hypoglycemia.
There was no history of swelling over hands and feet. She had normal developmental
milestones. She was noted to have growth failure since the age of 6 years onward;
however, no treatment was sought for the same. There was no history of chronic sys-
temic illness or gastrointestinal symptoms and her appetite was normal. Her scholastic
performance was average and she was studying in eighth standard. She did not have
history of headache, visual field defect, or previous history of head injury, meningitis,
or encephalitis. There was no history of cold intolerance, easy fatiguability, constipa-
tion, decreased appetite, or hypotensive episodes. She did not have any development
of secondary sexual characteristics till the age of presentation. Her family history was
noncontributory. There was no history of any treatment received so far. On examina-
tion, her height was 126 cm (−5.5 SDS in CDC growth chart and −2.2 SDS in Turner
growth chart, height age 8.5 years, target height 156 cm), weight was 23 Kg (weight
age 7 years), upper: lower segment ratio 1, with arm span of 131 cm. Her blood pres-
sure was 100/70 mmHg and pulse rate 92/min regular with no radiofemoral delay. She
had multiple pigmented nevi over face, low hairline, nystagmus in primary gaze, and
cubitus valgus. She had a small diffuse goiter and deep tendon reflexes were normal.
Her sexual maturation score was A-,P1,B 1. She did not have any skeletal deformities
and hearing was apparently normal. Cardiovascular system examination did not reveal
any abnormality and other systemic examination was noncontributory. On investiga-
tions, hemoglobin was 13.4 g/dl and liver and renal function tests, blood glucose, and
calcium profile were normal. Hormonal profile revealed T 3 1.49 ng/ml (N 0.8–2.0), T 4
8.21 μg/dl (N 4.8–12.7), TSH 3.05 μIU/ml (N 0.27–4.2), TPO antibody <5.0 IU/ml (N
<34), 0800h cortisol 559 nmol/L (N 171–536), LH 32.8 mIU/ml (N 1.7–8.6),
FSH 117 mIU/ml (N 1.5–12.4), E 2 5 pg/ml (N 12.5–166, follicular phase) and IGF1