Case 1: The long and short of it

A 13-and-a-half-year-old girl presented to the family physician with poor growth. She was first noticed to be short at around 10 years of age (height less than the third percentile). The problem had recently become more noticeable when the mother saw the younger sister overtake the patient in growth. The weight gain was also inadequate and she fell from the third percentile to less than the third percentile. The patient had no other symptoms. Specifically, there was no abdominal pain, nausea, vomiting, constipation, diarrhea, fever, rash or arthralgia. The patient's appetite, energy level and sleep pattern were normal. The patient's history was generally unremarkable. Her general development had been normal. She had not started menstruating. The family history was negative for any gastrointestinal diseases. The older sister had a goiter. The mother also had problems with her thyroid gland. Both parents and other family members were of average height. Physical examination revealed a well-looking, noticeably short adolescent. Her height was 135 cm (well below the third percentile for age) and her weight was 33.8 kg (less than the third percentile). Her vital signs were normal. There was no pallor, digital clubbing or thyromegaly. Pubertal development was early Tanner stage III breast development. There was no axillary or pubic hair. The rest of the examination was unremarkable. A laboratory investigation revealed a normal complete blood count (hemoglobin 134 g/L). Serum electrolytes, calcium, glucose, urea, creatinine, liver enzymes, ferritin, immunoglobulins, albumin, thyroid-stimulating hormone and free thyroxine were all normal. A paediatric endocrinology referral had been done. Several investigations, including growth hormone tests, an adrenocorticotropic hormone stimulation test and a luteinizing hormone-releasing hormone stimulation test, were all normal. A diagnostic test was performed. The patient had a tissue transglutaminase antibody test, which was strongly positive. She was referred to the gastroenterology service for a small intestinal biopsy to confirm the diagnosis of celiac disease. The biopsies taken from the distal duodenum showed villous atrophy, an increased number of intraepithelial lymphocytes, crypt hyperplasia and expansion of the lamina propria with inflammatory cells. A diagnosis of celiac disease was made. The patient was started on a gluten-free diet. At six-month follow-up, her weight had increased to 39.6 kg, which was close to the 10th percentile. She had gained 4 cm in height. In the next year, she gained another 8.9 cm in height. Celiac disease (gluten-sensitive enteropathy) is a very common disorder that may affect up to 1% of children in North America and Europe. It is also common in other parts of the world, including South America, Australia, northern Africa, the Middle East and the Indian subcontinent. The clinical presentation can be highly variable. Classical symptoms include abdominal pain, diarrhea, vomiting, abdominal distension, irritability and failure to thrive. However, children can also present with atypical symptoms, including iron-deficiency anemia and short stature. More and more children are now presenting with subtle and atypical symptoms. Celiac disease is also common in individuals with other autoimmune diseases, such as type I diabetes and thyroiditis. The causes of short stature in children are many and include familial, constitutional, endocrine, renal, gastrointestinal and nutritional disorders. However, short stature can be the only presenting clinical feature of celiac disease in the absence of other symptoms. In unselected patients admitted for short stature, the prevalence of celiac disease varies from 2.9% to 8.3%. Celiac disease is far more common than growth hormone deficiency or any other organic cause of short stature. The pathogenesis of celiac disease-associated short stature is still unclear. Proposed mechanisms include growth retardation due to generalized or selective malnutrition (eg, malnutrition of zinc), alterations in the insulin-like growth factor-1 system and insulin-like growth factor binding protein 3 during active disease, and a low response of growth hormone secretion after stimulation that reverts to normal after starting treatment with the gluten-free diet. It is not known whether the impaired pituitary release of growth hormone is related to malnutrition, to the action of circulating gluten peptides in the central nervous system or to an abnormal metabolism of brain monoamines. Celiac disease should be considered in any child with short stature. Tissue transglutaminase antibody and endomysial antibody tests are readily available, highly sensitive serological tests that can be used to screen for celiac disease. These tests are immunoglobulin (Ig) A-based, and IgA deficiency is common in individuals with celiac disease. Therefore, serum IgA levels must be measured to avoid a false-negative test. The serological tests are less reliable as a screening tool in children younger than five years. Serological testing should be obtained before doing more extensive (and expensive) hormonal evaluation in children with short stature. The confirmatory test for celiac disease is a small intestinal biopsy, and treatment is a strict gluten-free diet for life. Many children will show catch-up in their height after treatment with the diet. Celiac disease is a hereditary disorder with a high prevalence in first- and second-degree relatives. Therefore, one should not be swayed by ‘familial’ short stature because some of the other short family members may also be affected by this disorder. Children with celiac disease can present with a variety of typical and atypical symptoms, including short stature. Celiac disease is the most common organic cause of short stature. Serological screening for celiac disease should be performed before embarking on more extensive endocrinological investigations. ‘Familial’ short stature should not deter you from considering celiac disease as a possibility because others who are short in the family may also be suffering from the disorder.

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