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Case Report
A 7-year-old girl child, first product of a non-consanguineous marriage, presented to
us with a history of not gaining height as compared to her peers. Otherwise she was
asymptomatic. She was born full-term normal institutional delivery with a
birthweight of 3 kg and had no perinatal adverse event. She was exclusively breast-
fed till 6 months of age followed by complementary feeds. Her protein and caloric
intake were adequate for present age.
She had no history of contact with TB, chronic wheeze/ cough, cyanosis, chronic
diarrhea, recurrent vomiting, jaundice, recurrent urinary tract infection or polyuria.
Historically, her family dynamics appeared normal. Her pedigree had no genetic
disorder including celiac disease. Her younger sibling was a 4-year-old male child who
was thriving and growing well. On examination, her weight was 18 kg (81% of 50
centile of NCHS standard), height 100 cm (84% of 50 centile NCHS standard severe
stunting). She had mild pallor. There was no cyanosis, clubbing, generalized
lymphadenopathy or pedal edema. There were no other signs of malnutrition or
How to cite this article: dysmorphic features. Systemic examination was unremarkable. Investigations
Kumar V, Upreti V. Celiac showed hemoglobin of 10 g/dL, normal blood counts and urine analysis. Peripheral
Disease with Balanced blood smear showed microcytic hypochromic anemia. Liver and renal function tests
Translocation. J Adv Res Med were normal. Radiograph showed bone age to be 5-6 years. Thyroid function was
2016; 3(1): 15-17. within normal limits. Growth hormone basal was 2 ng/mL and post-stimulation with
clonidine was 4.2 ng/mL (>5 ng/mL), insulin like growth factor-1 (IGF-1) was 50 ng/mL
ISSN: 2349-7181
(52-450 ng/mL for 5-10 years). MRI brain for pituitary was normal. Based on above
evaluation, she was diagnosed as a case of isolated growth hormone deficiency.
She was started on recombinant growth hormone @ 0.2 histopathological findings consistent with celiac disease.
mg/kg/week (0.18-0.33 mg/kg/week) and was advised HLA typing showed DQ2 association. She was advised
to increase protein intake and do regular exercise. On gluten-free diet and supplementation with vitamins,
follow up, she showed a poor response at the end of iron and calcium. Growth hormone was stopped. At the
three months. She was advised anti-tissue end of six months, she showed increase in height by 3.5
transglutaminase test and karyotyping (to rule out cm and hemoglobin increased to 11.5 gm%. Parents
Turner mosaic). Former was 299.31 U/m mL (0.5-20) were counselled regarding the celiac disease and future
and latter to our surprise showed balanced implication of balanced translocation. Patient is growing
translocation 46XX, t (8; 17) (q13; q25) (Fig. 1). She well as per her genetic potential at one-year follow up
underwent endoscopic intestinal biopsy which showed on gluten-free diet without growth hormone.
ISSN: 2349-7181 16
J. Adv. Res. Med. 2016; 3(1) Kumar V et al.
17 ISSN: 2349-7181