Familial short stature and coeliac disease: a family case report.
A case of coeliac disease associated with growth retardation and pubertal failure in a 19 year old female is reported. Diagnosis was delayed by use of the term 'undiagnosed short stature'. Investigations confirmed severe malabsorption, osteoporosis and marked delay in bone growth associated with small bowel mucosal atrophy. HLA screening of the patient's family led to the identification of coeliac disease in her brother aged 12 years and her asymptomatic mother both of whom were short in stature. The institution of a gluten free diet, appropriate vitamin and mineral supplements has restored growth and sexual development to normal in the affected children. These cases emphasize the variable nature of coeliac disease, its familial occurrence and the need to exclude the disorder in cases of undiagnosed (familial) short stature.
D000328:Adult; D002446:Celiac Disease / Q000150:complications / Q000178:diet therapy / Q000235:genetics*; D002648:Child; D005260:Female; D005983:Glutens; D006130:Growth Disorders / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D010024:Osteoporosis / Q000209:etiology / Q000235:genetics; D011628:Puberty, Delayed / Q000209:etiology / Q000235:genetics*
D005983:Glutens