A 15-year-old female presented with growth failure and poor development of secondary 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 uneventful 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 systemic 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, constipation, 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 examination, 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 pressure 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,B1. 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 investigations, hemoglobin was 13.4 g/dl and liver and renal function tests, blood glucose, and calcium profile were normal. Hormonal profile revealed T3 1.49 ng/ml (N 0.8–2.0), T4 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), 0800 h 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), E2 5 pg/ml (N 12.5–166, follicular phase) and IGF1 281 ng/ml (N 237–996). Bone age was 12 years. Her 30 cell karyotype was 46Xi(X)(q10) (isochromosome). Serum IgA tTG was negative and serum total IgA was low normal; therefore, the patient was subjected for duodenal biopsy, which was reported to be normal. She underwent growth hormone dynamic tests after appropriate priming and peak response after insulin–hypoglycemia and glucagon stimulation were 9 ng/ml and 19 ng/ml, respectively. Ultrasonography of the abdomen revealed horseshoe kidney and hypoplastic uterus, and ovaries could not be visualized. Two-dimensional echocardiography did not display any abnormality. With this profile, she was diagnosed to have Turner syndrome and was initiated on estradiol valerate at a dose of 0.25 mg/day and was planned to increase gradually every 3–6 months (Fig. 8.1).
KeywordsCeliac Disease Turner Syndrome Bicuspid Aortic Valve Slip Capital Femoral Epiphysis Ring Chromosome
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