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  1. 1. Evaluation of Short Stature in the Office Setting
  2. 2. Objectives <ul><li>After review of this slide series, the primary care provider should be able to: </li></ul><ul><ul><li>Recognize pathologic growth and distinguish it from normal variants </li></ul></ul><ul><ul><li>Initiate the diagnostic evaluation of a child with growth failure </li></ul></ul><ul><ul><li>Refer a short child for further evaluation when appropriate </li></ul></ul>
  3. 3. Pre Test #1 <ul><li>When measuring growth in children: </li></ul><ul><ul><li>A. It is acceptable to mark the position of the head and feet of infants on the exam table paper, then measure the distance between them. </li></ul></ul><ul><ul><li>B. Young children plotted on the birth-36 month growth charts should be measured while lying down. </li></ul></ul><ul><ul><li>C. It is acceptable to measure children when they are wearing shoes, as long as they wear the same shoes each time. </li></ul></ul><ul><ul><li>Plotting height and weight on a growth chart is not important, because it does not provide any additional information. </li></ul></ul>
  4. 4. Pre Test #1 – answer <ul><li>B. Data used to derive the birth-36 month growth charts consist of length measurements, while those used to derive the 2-18 year growth charts consist of height measurements. Plotting heights on the birth-36 month growth charts may lead to misinterpretation of the relationship of the patient to the general population. Children should always be measured without shoes, and infants should be measured using a device made for this purpose. Marks on exam table paper are notoriously inaccurate! </li></ul>
  5. 5. Pre Test #2 <ul><li>Which of the following is a true statement? </li></ul><ul><ul><li>A. Short stature is rarely a symptom of chronic illnesses. </li></ul></ul><ul><ul><li>B. An x-ray of the left hand and wrist for bone age determination has no use when evaluating short children. </li></ul></ul><ul><ul><li>C. Growth hormone deficiency is the most common cause of short stature in children. </li></ul></ul><ul><ul><li>Untreated hypothyroidism does not impact a child’s growth. </li></ul></ul>
  6. 6. Pre Test #2 – answer <ul><li>C. The most common cause of short stature in children is familial short stature, as 5 % of the population is below the 5th percentile, and the great majority of these individuals are otherwise healthy. Growth hormone deficiency is a relatively uncommon cause of short stature. The other statements are all false. </li></ul>
  7. 7. Pre Test #3 <ul><li>When evaluating a child for short stature: </li></ul><ul><ul><li>A. Mid-parental height is obtained by simply averaging the mother’s height with the father’s height. </li></ul></ul><ul><ul><li>B. Determining the child’s rate of growth is extremely important. </li></ul></ul><ul><ul><li>C. Constitutional delay of growth is a rare cause of short stature in children. </li></ul></ul><ul><ul><li>Children whose parents are short are likely to have a skeletal dysplasia. </li></ul></ul>
  8. 8. Pre Test #3 – answer <ul><li>B. Determining the child’s rate of growth is extremely important. This allows one to compare the child’s growth velocity to that of normally growing children. Children with a slow growth velocity are more likely to have identifiable pathology, while those growing at a normal velocity are more likely to have a normal variant pattern of growth such as familial short stature or constitutional delay of growth, two very common situations. Mid-parental height is not obtained by a simple averaging of parents’ heights because of the systematic height difference between men and women. Allowance must be made for this difference before the heights are averaged. Most children of short parents are otherwise healthy and are unlikely to have a skeletal dysplasia in the absence of specific physical findings. </li></ul>
  9. 9. Tools to evaluate abnormal growth <ul><li>Growth charts </li></ul><ul><li>Calculation of mid-parental height </li></ul><ul><li>Growth velocity charts </li></ul><ul><li>Bone age x-rays </li></ul>
  10. 10. Growth Charts <ul><li>Critical for the evaluation of all children </li></ul><ul><li>Infant charts (birth – 36 months) are for lengths (recumbent) only! </li></ul><ul><li>Big kid charts (2-18 years) are for standing heights only! </li></ul><ul><ul><li>How a child is measured makes a difference!! </li></ul></ul>
  11. 11. Growth charts <ul><li>Measure standing heights on a wall mounted device - do not use floppy arm scales! </li></ul><ul><li>Measure lengths on a rigid surface with head and food plates </li></ul><ul><ul><li>Do not measure patients by marking the exam table paper!! </li></ul></ul>
  12. 12. Growth charts <ul><li>Plot growth chart measurements accurately </li></ul><ul><ul><li>i.e. do not plot a 4 ¾ year old as a 4 year old </li></ul></ul><ul><li>Children’s heights should be measured routinely at all visits </li></ul>
  13. 13. Calculation of mid-parental height <ul><li>As a group, men are taller than women by 5 inches </li></ul><ul><li>Mid-parental height eliminates this systematic bias </li></ul><ul><li>For girls, subtract 5 inches from dad’s height and average that with mom’s height </li></ul><ul><li>For boys, add 5 inches to mom’s height and average that with dad’s height </li></ul>
  14. 14. Calculation of mid-parental height <ul><li>After age 2, children usually grow along the percentile predicted by their mid-parental heights </li></ul><ul><li>Crossing more than one percentile line after age 2 suggests a slow growth velocity and may be pathologic </li></ul>
  15. 15. Growth velocity <ul><li>Growth velocity varies with age and puberty </li></ul><ul><ul><li>School age children should grow at least 2 inches (5 cm) per year </li></ul></ul><ul><li>Slowly growing children become shorter than their peers over time and are more likely to have pathology </li></ul>
  16. 16. Growth velocity <ul><li>Growth velocity charts are available </li></ul>
  17. 17. Bone age x-rays <ul><li>Quantifies skeletal maturity </li></ul><ul><li>X-ray of left hand and wrist </li></ul><ul><ul><li>Right hand, arm are not needed </li></ul></ul><ul><li>X-ray is compared to an atlas of standard hand x-rays </li></ul><ul><li>Helpful to predict adult height and puberty </li></ul><ul><li>A delayed bone age is not necessarily worrisome </li></ul>
  18. 18. Bone age x-rays
  19. 19. Clinical evaluation of the short child <ul><li>History </li></ul><ul><li>Physical exam </li></ul><ul><li>Radiology </li></ul><ul><li>Laboratory </li></ul><ul><ul><li>General labs </li></ul></ul><ul><ul><li>Disease-specific labs </li></ul></ul><ul><ul><li>Endocrine labs </li></ul></ul>
  20. 20. Clinical evaluation of the short child <ul><li>History </li></ul><ul><ul><li>Needs to be broad and thorough </li></ul></ul><ul><ul><li>Inquire about growth rate </li></ul></ul><ul><ul><ul><li>Outgrowing clothes/shoes? </li></ul></ul></ul><ul><ul><ul><li>Able to reach things he/she could not before? </li></ul></ul></ul><ul><ul><ul><li>Falling further behing peers? </li></ul></ul></ul><ul><ul><li>Nutrition problems </li></ul></ul><ul><ul><li>Developmental milestones </li></ul></ul>
  21. 21. Clinical evaluation of the short child <ul><li>Family history </li></ul><ul><ul><li>Parents’ heights </li></ul></ul><ul><ul><li>Parents’ ages at puberty (mother’s menarche, age when parents stopped getting taller) </li></ul></ul><ul><li>Complete review of systems </li></ul>
  22. 22. Clinical evaluation of the short child <ul><li>Physical exam </li></ul><ul><ul><li>Do a thorough exam </li></ul></ul><ul><ul><li>Careful measurement of height as above </li></ul></ul><ul><ul><li>Include fundi, thyroid, extremities for evidence of dysmorphisms </li></ul></ul><ul><ul><li>Evaluation of the patient’s pubertal status </li></ul></ul>
  23. 23. Radiology <ul><li>Left hand x-ray for bone age </li></ul><ul><li>Part of the evaluation for all short children </li></ul><ul><li>Send the film with the patient if you refer to Pediatric Endocrinology </li></ul>
  24. 24. Laboratory <ul><li>General labs </li></ul><ul><ul><li>Comprehensive metabolic panel </li></ul></ul><ul><ul><ul><li>Renal, hepatic, other metabolic diseases </li></ul></ul></ul><ul><ul><li>CBC </li></ul></ul><ul><ul><ul><li>Anemias, evidence of chronic infection </li></ul></ul></ul><ul><ul><li>Urinalysis </li></ul></ul><ul><ul><ul><li>Renal disease, infections </li></ul></ul></ul>
  25. 25. Laboratory <ul><li>Condition-specific labs </li></ul><ul><ul><li>Karyotype in girls </li></ul></ul><ul><ul><ul><li>Turner syndrome </li></ul></ul></ul><ul><ul><li>Tissue transglutaminase antibodies </li></ul></ul><ul><ul><ul><li>Celiac disease </li></ul></ul></ul><ul><ul><li>Sedimentation rate/CRP </li></ul></ul><ul><ul><ul><li>Inflammatory bowel disease </li></ul></ul></ul>
  26. 26. Laboratory <ul><li>Endocrine labs </li></ul><ul><ul><li>TSH, T4 </li></ul></ul><ul><ul><ul><li>Hypothyroidism </li></ul></ul></ul><ul><ul><li>IGF-1, IGFBP-3 </li></ul></ul><ul><ul><ul><li>Growth hormone deficiency </li></ul></ul></ul><ul><ul><li>A random growth hormone level is not helpful in the evaluation of short stature! </li></ul></ul>
  27. 27. When to refer to Pediatric Endocrinology <ul><li>Growth rate is abnormally low </li></ul><ul><li>Severe short stature </li></ul><ul><ul><li>Height below the 3 rd percentile or more than ¾ inch below the 5 th percentile </li></ul></ul><ul><li>Abnormality in endocrine labs </li></ul><ul><li>Large discrepancy between mid-parental height percentile and the patient’s percentile </li></ul><ul><li>Other special concerns </li></ul>
  28. 28. <ul><li>Infants and toddlers with failure to thrive (poor weight gain but with normal lengths/heights) are unlikely to have endocrine disease and should be seen by Pediatric GI or Developmental Pediatrics </li></ul>
  29. 29. Differential diagnosis of growth failure <ul><li>Normal variants </li></ul><ul><ul><li>“ Familial” short stature </li></ul></ul><ul><ul><li>Constitutional delay of growth </li></ul></ul><ul><li>Pathologic growth </li></ul>
  30. 30. Differential diagnosis of growth failure <ul><li>“ Familial” short stature </li></ul><ul><ul><li>One or both parents mildly short </li></ul></ul><ul><ul><li>Mid-parental height usually near the 5 th -10 th percentile </li></ul></ul><ul><ul><li>Normal growth velocity </li></ul></ul><ul><ul><li>Normal bone age </li></ul></ul><ul><ul><li>Caution if the patient or a parent is severely short (<3 rd percentile) – this may be a genetic defect rather than the short end of normal </li></ul></ul>
  31. 31. Differential diagnosis of growth failure <ul><li>Constitutional delay of growth and puberty </li></ul><ul><ul><li>Mild – moderate short stature (height around 3 rd -5 th percentile) </li></ul></ul><ul><ul><li>History of late puberty in family </li></ul></ul><ul><ul><li>Slow growth rate as a toddler but normal growth rate after 2-3 years old </li></ul></ul><ul><ul><li>Normal mid-parental height </li></ul></ul><ul><ul><li>Delay in bone age of 1-3 years </li></ul></ul><ul><ul><li>Predicted adult height usually within normal </li></ul></ul>
  32. 32. Differential diagnosis of growth failure <ul><li>Pathologic growth failure </li></ul><ul><ul><li>Must distinguish from normal variants </li></ul></ul><ul><ul><ul><li>Abnormal growth rate after infancy </li></ul></ul></ul><ul><ul><ul><li>Coexistent chronic disease </li></ul></ul></ul><ul><ul><ul><li>Abnormal physical exam </li></ul></ul></ul><ul><ul><ul><li>Abnormal lab findings </li></ul></ul></ul>
  33. 33. Differential diagnosis of growth failure <ul><li>Pathologic growth failure </li></ul><ul><ul><li>Endocrine conditions amenable to treatment </li></ul></ul><ul><ul><ul><li>Severe longstanding hypothyroidism </li></ul></ul></ul><ul><ul><ul><ul><li>Thyroid hormone replacement </li></ul></ul></ul></ul><ul><ul><ul><li>Growth hormone deficiency </li></ul></ul></ul><ul><ul><ul><ul><li>Growth hormone replacement </li></ul></ul></ul></ul><ul><ul><ul><li>Cushing syndrome </li></ul></ul></ul><ul><ul><ul><ul><li>Correction of hypercortisolism </li></ul></ul></ul></ul>
  34. 34. Differential diagnosis of growth failure <ul><li>Conditions amenable to treatment </li></ul><ul><ul><li>Small for gestational age </li></ul></ul><ul><ul><ul><li>Growth hormone treatment </li></ul></ul></ul><ul><ul><li>Turner syndrome </li></ul></ul><ul><ul><ul><li>Growth hormone treatment </li></ul></ul></ul><ul><ul><ul><li>Replacement of estrogen during puberty </li></ul></ul></ul><ul><ul><li>Idiopathic short stature </li></ul></ul><ul><ul><ul><li>Growth hormone treatment </li></ul></ul></ul><ul><ul><ul><li>IGF-1 treatment </li></ul></ul></ul><ul><ul><li>Prader-Willi syndrome </li></ul></ul><ul><ul><ul><li>Growth hormone replacement </li></ul></ul></ul>Prader-Willi syndrome Toddler
  35. 35. Post Test #1 <ul><ul><li>Which of the following is true regarding growth in girls with Turner syndrome? </li></ul></ul><ul><ul><li>A. Short stature is uncommon among girls with Turner syndrome. </li></ul></ul><ul><ul><li>B. Growth hormone has a beneficial effect on the final adult height of girls with Turner syndrome. </li></ul></ul><ul><ul><li>C. All girls with Turner syndrome have external manifestations other than short stature. </li></ul></ul><ul><ul><li>D. A karyotype is not necessary to make the diagnosis of Turner syndrome. </li></ul></ul>
  36. 36. Post Test #1 - answer <ul><li>B. Growth hormone has been shown to result in an increase of approximately 8 cm in the adult height of treated women. The longer duration of treatment commonly practiced today may result in even greater increases. The other statements are false. </li></ul>
  37. 37. Post Test #2 <ul><li>A child in your practice has been diagnosed with constitutional delay of growth, and the family wants to know more about the condition. Which of the following is a true statement? </li></ul><ul><ul><li>A. Children with constitutional delay of growth rarely have a positive family history of this growth pattern. </li></ul></ul><ul><ul><li>B. During the school age years, children with constitutional delay of growth grow at a slow velocity. </li></ul></ul><ul><ul><li>C. The bone age is typically normal in children with constitutional delay of growth. </li></ul></ul><ul><ul><li>The onset of puberty occurs at an average age of 14 years in boys with constitutional delay of growth. </li></ul></ul>
  38. 38. Post Test #2 - answer <ul><li>D. Boys with constitutional delay of growth typically enter puberty at a relatively late age. The average age of onset of puberty in normal boys is 11 years, and puberty in boys with constitutional delay begins several years later. This late entry into puberty allows these children to grow several years longer than their peers, accounting for the catch-up growth seen in late adolescence. The other statements are false. </li></ul>
  39. 39. Post Test #3 <ul><li>A boy presents to your office for an evaluation of short stature. His mother is 63 inches tall, and his father is 72 inches tall. You calculate that his mid-parental height is: </li></ul><ul><ul><li>A. 72 inches </li></ul></ul><ul><ul><li>B. 65.5 inches </li></ul></ul><ul><ul><li>C. 70 inches </li></ul></ul><ul><ul><li>67.5 inches </li></ul></ul>
  40. 40. Post Test #3 – answer <ul><li>C. The midparental height in boys is calculated by adding 5 inches (13 cm) to the mother’s height, thus adjusting for the systematic difference between the heights of males and females. This value is then averaged with the father’s height. In this case, the calculation gives the mid-parental height as 70 inches </li></ul>
  41. 41. Post Test #4 <ul><li>A 7 ½ year old girl comes to you for an evaluation of short stature. You measure her and find that her height is 44.5 inches (5th percentile) and that she has grown 1 inch (2.5 cm) since her last visit one year ago. What should you tell the family? </li></ul><ul><ul><li>A. She probably has constitutional growth delay and she will attain a final adult height that is within the normal range. </li></ul></ul><ul><ul><li>B. If her bone age is not delayed, there is nothing to worry about. </li></ul></ul><ul><ul><li>C. Her growth velocity is abnormal, and she should probably have laboratory studies to evaluate this problem. </li></ul></ul><ul><ul><li>Her growth velocity is normal, and this is reassuring that she does not have a serious medical condition. </li></ul></ul>
  42. 42. Post Test #4 – answer <ul><li>C. The average growth velocity for a 7 year old girl is 5.9 cm/year, but this child’s growth velocity is only 2.5 cm/year. This is a warning sign of a pathological condition, and she should be evaluated further. A slow growth velocity at this age is not consistent with the diagnosis of constitutional delay of growth, and it is abnormal regardless of the bone age. </li></ul>
  43. 43. Post Test #5 <ul><li>Which of the following is true regarding children with growth hormone deficiency? </li></ul><ul><ul><li>A. The patient must have a height below the 5th percentile to make the diagnosis of growth hormone deficiency. </li></ul></ul><ul><ul><li>B. Children with growth hormone deficiency generally have an abnormally low growth velocity. </li></ul></ul><ul><ul><li>C. Randomly obtained growth hormone levels are helpful for the diagnosis of growth hormone deficiency in children. </li></ul></ul><ul><ul><li>The bone age is usually advanced in growth hormone deficient children. </li></ul></ul>
  44. 44. Post Test #5 – answer <ul><li>A. The hallmark of growth hormone deficiency is a slow growth velocity, regardless of the patient’s height percentile. Growth hormone deficient children may not be short at the time of diagnosis, but may be crossing height percentile lines as a result of their slow growth. If untreated, they will eventually be below the 5th percentile for height, but they may be diagnosed before this occurs. The other statements are all false. </li></ul>
  45. 45. Section of Pediatric Endocrinology Riley Hospital for Children <ul><li>Appointments available: </li></ul><ul><ul><li>Riley Hospital main campus </li></ul></ul><ul><ul><li>Clarian North </li></ul></ul><ul><ul><li>St. Francis South Campus </li></ul></ul><ul><ul><li>St. Joseph Hospital, South Bend </li></ul></ul><ul><ul><li>Deaconess Hospital, Evansville </li></ul></ul><ul><li>For appointments, please call 317-274-3889 (Indianapolis) 574-239-6126 (South Bend) 812-858-3131 (Evansville) </li></ul>