Symptom Finder - Dwarfism
DWARFISM
A list of possible causes of dwarfism may be developed anatomically, physiologically, and biochemically. Visualizing the many organs of the body is an excellent way to recall the causes. Beginning with the pituitary one thinks of hypopituitarism and Lawrence–Moon–Biedl syndrome. The thyroid suggests cretinism. The heart suggests the many congenital anomalies there (e.g., tetralogy of Fallot) that are associated with dwarfism. The GI tract suggests the malabsorption syndrome and its many causes. The pancreas suggests cystic fibrosis. The kidney suggests chronic nephritis with renal rickets. The bone suggests rickets and achondroplasia. The brain suggests microcephaly and all the other causes of mental retardation (such as Down syndrome) that are associated with
stunted growth. The ovary suggests Turner syndrome. (This method will not help recall the primordial dwarf and some of the other genetic dwarfs but it is a good start.)
Applying physiology and biochemistry, one must consider the intake of food and oxygen, its absorption and transport, and its uptake by the cells and excretion of waste products. For the regulation and promotion of this metabolic process, adequate vitamins and hormones are essential. With these processes in mind, one can recall the diseases that interfere with each.
Intake: Starvation and malnutrition cause dwarfism and various vitamin deficiency states, rickets being the most significant.
Absorption: Malabsorption syndromes may create dwarfism by preventing food and vitamins from getting into the body.
Transport: Congenital anomalies of the heart prevent distribution of oxygen and glucose to the cells.
Cell uptake: Impaired cell uptake of glucose in diabetes may cause a short stature; the bulging of the cells with glycogen in glycogen storage disease may do the same. Galactosemia is a possible cause. Reticuloendotheliosis and gargoylism may be recalled under this heading.
Excretion of waste products: This heading should help recall renal rickets.
Regulation: This heading helps recall the hormonal deficiency states: cretinism (deficiency of thyroxine), Turner syndrome (deficiencies of estrogen and progesterone), and hypopituitarism (deficiency of growth hormone). Poor function of all of the above would suggest progeria.
The adrenal carcinomas may cause precocious puberty and premature closure of the epiphysis. The above method fails to include most of the genetic causes of dwarfism, so perhaps this group can be remembered by its exclusion.
Approach to the Diagnosis
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. Hypothyroidism can be distinguished by a delayed bone age. 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.
A list of possible causes of dwarfism may be developed anatomically, physiologically, and biochemically. Visualizing the many organs of the body is an excellent way to recall the causes. Beginning with the pituitary one thinks of hypopituitarism and Lawrence–Moon–Biedl syndrome. The thyroid suggests cretinism. The heart suggests the many congenital anomalies there (e.g., tetralogy of Fallot) that are associated with dwarfism. The GI tract suggests the malabsorption syndrome and its many causes. The pancreas suggests cystic fibrosis. The kidney suggests chronic nephritis with renal rickets. The bone suggests rickets and achondroplasia. The brain suggests microcephaly and all the other causes of mental retardation (such as Down syndrome) that are associated with
stunted growth. The ovary suggests Turner syndrome. (This method will not help recall the primordial dwarf and some of the other genetic dwarfs but it is a good start.)
Applying physiology and biochemistry, one must consider the intake of food and oxygen, its absorption and transport, and its uptake by the cells and excretion of waste products. For the regulation and promotion of this metabolic process, adequate vitamins and hormones are essential. With these processes in mind, one can recall the diseases that interfere with each.
Intake: Starvation and malnutrition cause dwarfism and various vitamin deficiency states, rickets being the most significant.
Absorption: Malabsorption syndromes may create dwarfism by preventing food and vitamins from getting into the body.
Transport: Congenital anomalies of the heart prevent distribution of oxygen and glucose to the cells.
Cell uptake: Impaired cell uptake of glucose in diabetes may cause a short stature; the bulging of the cells with glycogen in glycogen storage disease may do the same. Galactosemia is a possible cause. Reticuloendotheliosis and gargoylism may be recalled under this heading.
Excretion of waste products: This heading should help recall renal rickets.
Regulation: This heading helps recall the hormonal deficiency states: cretinism (deficiency of thyroxine), Turner syndrome (deficiencies of estrogen and progesterone), and hypopituitarism (deficiency of growth hormone). Poor function of all of the above would suggest progeria.
The adrenal carcinomas may cause precocious puberty and premature closure of the epiphysis. The above method fails to include most of the genetic causes of dwarfism, so perhaps this group can be remembered by its exclusion.
Approach to the Diagnosis
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. Hypothyroidism can be distinguished by a delayed bone age. 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.
