Investigation and Management of Short Stature
Investigation and Management of Short Stature
One of the twins in the picture (figure 5) has an underlying pathology. By the time children are around 2 years of age they find a centile and adhere to it, and so either twin 1 must be growing abnormally quickly or twin 2 must be growing abnormally slowly. Causes of rapid growth include the onset of puberty, thyrotoxicosis and GH excess. Twin 1 had none of these conditions, and so it must be twin 2 growing slowly. His slow growth cannot be physiological at this age (both boys are prepubertal) and it cannot reflect the fact that he was born small for gestational age—in which case he would always have been smaller. There is no suggestion of a syndromic diagnosis (he is not dysmorphic), or a bone dysplasia, and his disposition argues against either psychosocial growth failure or overt chronic illness. He does not look hypothyroid, and if he had idiopathic GH deficiency he would be short from early life and not taller than his brother. On the basis of this clinical assessment it can be argued that the key investigations include the exclusion of chronic illness (by assessment of his tissue transglutaminase (TTG) antibody status and creatinine—all of which were normal). He must, therefore, have an evolving cranial lesion that is affecting endocrine function and more specifically GH release. Imaging revealed that the child had a craniopharyngioma.
(Enlarge Image)
Figure 5.
Twins, one of whom is growing slowly (twin 2). See text for further details.
Case Study
One of the twins in the picture (figure 5) has an underlying pathology. By the time children are around 2 years of age they find a centile and adhere to it, and so either twin 1 must be growing abnormally quickly or twin 2 must be growing abnormally slowly. Causes of rapid growth include the onset of puberty, thyrotoxicosis and GH excess. Twin 1 had none of these conditions, and so it must be twin 2 growing slowly. His slow growth cannot be physiological at this age (both boys are prepubertal) and it cannot reflect the fact that he was born small for gestational age—in which case he would always have been smaller. There is no suggestion of a syndromic diagnosis (he is not dysmorphic), or a bone dysplasia, and his disposition argues against either psychosocial growth failure or overt chronic illness. He does not look hypothyroid, and if he had idiopathic GH deficiency he would be short from early life and not taller than his brother. On the basis of this clinical assessment it can be argued that the key investigations include the exclusion of chronic illness (by assessment of his tissue transglutaminase (TTG) antibody status and creatinine—all of which were normal). He must, therefore, have an evolving cranial lesion that is affecting endocrine function and more specifically GH release. Imaging revealed that the child had a craniopharyngioma.
(Enlarge Image)
Figure 5.
Twins, one of whom is growing slowly (twin 2). See text for further details.