Evaluation of Short Stature in the Office Setting

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Evaluation of Short Stature in the
OfficeSetting
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Objectives

• After review of this slide series, the primary
  care provider should be able to
• Recognize pathologic growth and distinguish it
  from normal variants
• Initiate the diagnostic evaluation of a child
  with growth failure
• Refer a short child for further evaluation when
  appropriate

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Pre Test 1

• When measuring growth in children
• 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.
• B. Young children plotted on the birth-36 month
  growth charts should be measured while lying
  down.
• C. It is acceptable to measure children when
  they are wearing shoes, as long as they wear the
  same shoes each time.
• Plotting height and weight on a growth chart is
  not important, because it does not provide any
  additional information.

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Pre Test 1 answer

• 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!

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Pre Test 2

• Which of the following is a true statement?
• A. Short stature is rarely a symptom of chronic
  illnesses.
• B. An x-ray of the left hand and wrist for bone
  age determination has no use when evaluating
  short children.
• C. Growth hormone deficiency is the most common
  cause of short stature in children.
• Untreated hypothyroidism does not impact a
  childs growth.

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Pre Test 2 answer

• 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.

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Pre Test 3

• When evaluating a child for short stature
• A. Mid-parental height is obtained by simply
  averaging the mothers height with the fathers
  height.
• B. Determining the childs rate of growth is
  extremely important.
• C. Constitutional delay of growth is a rare
  cause of short stature in children.
• Children whose parents are short are likely to
  have a skeletal dysplasia.

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Pre Test 3 answer

• B. Determining the childs rate of growth is
  extremely important. This allows one to compare
  the childs 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.

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Tools to evaluate abnormal growth

• Growth charts
• Calculation of mid-parental height
• Growth velocity charts
• Bone age x-rays

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Growth Charts

• Critical for the evaluation of all children
• Infant charts (birth 36 months) are for
  lengths (recumbent) only!
• Big kid charts (2-18 years) are for standing
  heights only!
• How a child is measured makes a difference!!

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Growth charts

• Measure standingheights on a wallmounted
  device- do not use floppyarm scales!
• Measure lengths on a rigid surface with head
  and food plates
• Do not measure patients by marking the exam table
  paper!!

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Growth charts

• Plot growth chart measurements accurately
• i.e. do not plot a 4 ¾ year old as a 4 year old
• Childrens heights should be measured routinely
  at all visits

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Calculation of mid-parental height

• As a group, men are taller than women by 5
  inches
• Mid-parental height eliminates this systematic
  bias
• For girls, subtract 5 inches from dads height
  and average that with moms height
• For boys, add 5 inches to moms height and
  average that with dads height

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Calculation of mid-parental height

• After age 2, children usually grow along the
  percentile predicted by their mid-parental
  heights
• Crossing more than one percentile line after
  age 2 suggests a slow growth velocity and may
  be pathologic

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Growth velocity

• Growth velocity varies with age and puberty
• School age children should grow at least 2 inches
  (5 cm) per year
• Slowly growing children become shorter than their
  peers over time and are more likely to have
  pathology

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Growth velocity

• Growth velocity charts are available

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Bone age x-rays

• Quantifies skeletal maturity
• X-ray of left hand and wrist
• Right hand, arm are not needed
• X-ray is compared to an atlas of standard hand
  x-rays
• Helpful to predict adult height and puberty
• A delayed bone age is not necessarily worrisome

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Bone age x-rays
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Clinical evaluation of the short child

• History
• Physical exam
• Radiology
• Laboratory
• General labs
• Disease-specific labs
• Endocrine labs

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Clinical evaluation of the short child

• History
• Needs to be broad and thorough
• Inquire about growth rate
• Outgrowing clothes/shoes?
• Able to reach things he/she could not before?
• Falling further behing peers?
• Nutrition problems
• Developmental milestones

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Clinical evaluation of the short child

• Family history
• Parents heights
• Parents ages at puberty (mothers menarche, age
  when parents stopped getting taller)
• Complete review of systems

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Clinical evaluation of the short child

• Physical exam
• Do a thorough exam
• Careful measurement of height as above
• Include fundi, thyroid, extremities for evidence
  of dysmorphisms
• Evaluation of the patients pubertal status

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Radiology

• Left hand x-ray for bone age
• Part of the evaluation for all short children
• Send the film withthe patient if yourefer to
  PediatricEndocrinology

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Laboratory

• General labs
• Comprehensive metabolic panel
• Renal, hepatic, other metabolic diseases
• CBC
• Anemias, evidence of chronic infection
• Urinalysis
• Renal disease, infections

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Laboratory

• Condition-specific labs
• Karyotype in girls
• Turner syndrome
• Tissue transglutaminaseantibodies
• Celiac disease
• Sedimentation rate/CRP
• Inflammatory bowel disease

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Laboratory

• Endocrine labs
• TSH, T4
• Hypothyroidism
• IGF-1, IGFBP-3
• Growth hormone deficiency
• A random growth hormone level is not helpful in
  the evaluation of short stature!

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When to refer to Pediatric Endocrinology

• Growth rate is abnormally low
• Severe short stature
• Height below the 3rd percentile or more than ¾
  inch below the 5th percentile
• Abnormality in endocrine labs
• Large discrepancy between mid-parental height
  percentile and the patients percentile
• Other special concerns

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• 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

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Differential diagnosis of growth failure

• Normal variants
• Familial short stature
• Constitutional delay of growth
• Pathologic growth

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Differential diagnosis of growth failure

• Familial short stature
• One or both parents mildly short
• Mid-parental height usually near the 5th -10th
  percentile
• Normal growth velocity
• Normal bone age
• Caution if the patient or a parent is severely
  short (lt3rd percentile) this may be a genetic
  defect rather than the short end of normal

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Differential diagnosis of growth failure

• Constitutional delay of growth and puberty
• Mild moderate short stature (height around
  3rd-5th percentile)
• History of late puberty in family
• Slow growth rate as a toddler but normal growth
  rate after 2-3 years old
• Normal mid-parental height
• Delay in bone age of 1-3 years
• Predicted adult height usually within normal

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Differential diagnosis of growth failure

• Pathologic growth failure
• Must distinguish fromnormal variants
• Abnormal growth rateafter infancy
• Coexistent chronic disease
• Abnormal physical exam
• Abnormal lab findings

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Differential diagnosis of growth failure

• Pathologic growth failure
• Endocrine conditions amenable to treatment
• Severe longstanding hypothyroidism
• Thyroid hormone replacement
• Growth hormone deficiency
• Growth hormone replacement
• Cushing syndrome
• Correction of hypercortisolism

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Differential diagnosis of growth failure

• Conditions amenable to treatment
• Small for gestational age
• Growth hormone treatment
• Turner syndrome
• Growth hormone treatment
• Replacement of estrogenduring puberty
• Idiopathic short stature
• Growth hormone treatment
• IGF-1 treatment
• Prader-Willi syndrome
• Growth hormone replacement

Prader-Willi syndrome
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Post Test 1

• Which of the following is true regarding growth
  in girls with Turner syndrome?
• A. Short stature is uncommon among girls with
  Turner syndrome.
• B. Growth hormone has a beneficial effect on the
  final adult height of girls with Turner syndrome.
• C. All girls with Turner syndrome have external
  manifestations other than short stature.
• D. A karyotype is not necessary to make the
  diagnosis of Turner syndrome.

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Post Test 1 - answer

• 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.

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Post Test 2

• 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?
• A. Children with constitutional delay of growth
  rarely have a positive family history of this
  growth pattern.
• B. During the school age years, children with
  constitutional delay of growth grow at a slow
  velocity.
• C. The bone age is typically normal in children
  with constitutional delay of growth.
• The onset of puberty occurs at an average age of
  14 years in boys with constitutional delay of
  growth.

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Post Test 2 - answer

• 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.

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Post Test 3

• 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
• A. 72 inches
• B. 65.5 inches
• C. 70 inches
• 67.5 inches

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Post Test 3 answer

• C. The midparental height in boys is
  calculated by adding 5 inches (13 cm) to the
  mothers height, thus adjusting for the
  systematic difference between the heights of
  males and females. This value is then averaged
  with the fathers height. In this case, the
  calculation gives the mid-parental height as 70
  inches

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Post Test 4

• 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?
• A. She probably has constitutional growth delay
  and she will attain a final adult height that is
  within the normal range.
• B. If her bone age is not delayed, there is
  nothing to worry about.
• C. Her growth velocity is abnormal, and she
  should probably have laboratory studies to
  evaluate this problem.
• Her growth velocity is normal, and this is
  reassuring that she does not have a serious
  medical condition.

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Post Test 4 answer

• C. The average growth velocity for a 7 year old
  girl is 5.9 cm/year, but this childs 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.

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Post Test 5

• Which of the following is true regarding
  children with growth hormone deficiency?
• A. The patient must have a height below the 5th
  percentile to make the diagnosis of growth
  hormone deficiency.
• B. Children with growth hormone deficiency
  generally have an abnormally low growth velocity.
• C. Randomly obtained growth hormone levels are
  helpful for the diagnosis of growth hormone
  deficiency in children.
• The bone age is usually advanced in growth
  hormone deficient children.

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Post Test 5 answer

• A. The hallmark of growth hormone deficiency is
  a slow growth velocity, regardless of the
  patients 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.

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Section of Pediatric EndocrinologyRiley Hospital
for Children

• Appointments available
• Riley Hospital main campus
• Clarian North
• St. Francis South Campus
• St. Joseph Hospital, South Bend
• Deaconess Hospital, Evansville

• For appointments, please call317-274-3889
  (Indianapolis)574-239-6126 (South
  Bend)812-858-3131 (Evansville)