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Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones.
If Turner's syndrome is suspected, a buccal smear for sex chromogen may be done. If pituitary dwarfism is suspected, a CT scan of the skull may be helpful. Additional endocrine tests include a serum growth hormone level before and after exercise, a resting somatomedin-C level, and an overnight dexamethasone suppression test. In patients suspected of having rickets and hypoparathyroidism, 24-hr urine calciums may be done. However, it is best to consult a pediatrician, endocrinologist, or orthopedic surgeon before proceeding with expensive diagnostic tests.
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
The workup of dwarfism should probably be done by an endocrinologist. Many of the causes are genetic and untreatable, but it would be a shame to miss cretinism, hypopituitarism, or Turner syndrome. All of these have associated findings that should help differentiate them, but hypopituitarism may be very subtle. Cystic fibrosis can be diagnosed by a sweat test. Down syndrome, Turner syndrome, and certain other genetic causes can be determined by a chromosomal analysis.
Source: Differential Diagnosis in Primary Care, 2007
The workup of dwarfism should probably be done by an endocrinologist. Many of the causes are genetic and untreatable, but it would be a shame to miss cretinism, hypopituitarism, or Turner syndrome. All of these have associated findings that should help to differentiate them, but hypopituitarism may be very subtle. Cystic fibrosis can be diagnosed by a sweat test. Down syndrome, Turner syndrome, and certain other genetic causes can be determined by a chromosomal analysis.
Source: Differential Diagnosis in Primary Care, 2007
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