Clinical_Rounds_in_Endocrinology_Volume_II_-_Pediatric_Endocrinology

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  1. When to suspect celiac disease in a short child?


Celiac disease is an immune-mediated enteropathy triggered by gluten and
occurs in genetically susceptible individuals (HLA-DQ2 and DQ8). Celiac dis-
ease should be suspected in a short child with gastrointestinal manifestations,
anemia, delayed puberty, or rickets–osteomalacia. However, monosymptomatic
presentation of celiac disease with short stature is not uncommon.
Gastrointestinal manifestations are present only in 30 % of patients with celiac
disease and include anorexia, abdominal pain, bloating, diarrhea, steatorrhoea,
and weight loss. Every short child should undergo screening for celiac disease
if weight for height is impaired, especially in individuals who consume gluten-
based diet.


  1. How to diagnose celiac disease?


IgA tissue transglutaminase (IgA tTG) is a good screening test with a sensitiv-
ity of 98 % and specificity of 95 %, and if found positive diagnosis should be
confirmed with duodenal biopsy before subjecting to gluten-free diet. However,
if IgA tTG is negative in the presence of strong clinical suspicion of celiac dis-
ease, serum total IgA should be measured, as serum IgA levels are lower in
2–5 % of patients with celiac disease. Patients with a low serum IgA levels
should be subjected to IgG-tTG estimation (with or without anti-deamidated
gliadin peptide IgG antibody), and if any of these antibodies is found to be
elevated, the patient should be subjected to duodenal biopsy. However, if clini-
cal suspicion is strong and all antibody titers are negative, even then the patient
should be subjected to duodenal biopsy.


  1. How does celiac disease cause short stature?


Celiac disease is a cause of growth failure in 2.9–8.3 % of children with short
stature. The decreased linear growth in celiac disease is attributed to nutrient
deficiency, altered GH–IGF1 axis, abnormal cytokine milieu, and delayed
puberty. The degree of growth impairment is similar irrespective of presence or
absence of gastrointestinal manifestations. Both macronutrient and micronutri-
ent deficiency contribute to reduced anabolism and linear growth. Basal and
stimulated GH, IGF1, and IGFBP3 are low in celiac disease. Demonstration of
anti-pituitary antibodies in few patients with celiac disease points toward
involvement of somatotropes by the autoimmune process. In addition, partial
growth hormone insensitivity has also been reported, as exogenous GH therapy
in children with untreated celiac disease fails to increase serum IGF1 levels.
Increased inflammatory cytokines like TNF-α, IL-1, and IL-6 also contribute to
impaired growth as they inhibit IGF1 generation. Delayed puberty is not

1 Disorders of Growth and Development: Clinical Perspectives
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