262
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 kid-
ney and hypoplastic uterus, and ovaries could not be visualized. Two-dimensional
echocardiography did not display any abnormality. With this profile, she was diag-
nosed 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).
Fig. 8.1 (a) A 15-year-old girl presented with short stature and delayed puberty. (b) Note multiple
facial nevi and webbing of neck. (c) Karyotype shows 46Xi(X)(q10), isochromosome (red arrow).
Patient is presently on estrogen replacement therapy
ab8 Turner Syndrome