Short Stature In Children-Evaluating

Question 1

Of the many causes of short stature what are the 2 most common causes in children?

Answer 1

Genetic short stature, AKA familial short stature and constitutional growth delay.

Question 2

What is the definition for short stature in a child?

Answer 2

Height less than 2 standard deviations below the mean height for age and sex, for height less than 3rd percentile for age and sex.

Question 3

What are the General components other than height for age and sex necessary for the work-up of a child with short stature?

Answer 3

History and physical exam
Assessment of the child growth velocity
Calculation of the mid parental height
Radiologic evaluations
Laboratory evaluations
Genetic evaluation+

Question 4

What are some of the salient features of a history in a child with short stature?

Answer 4

Prenatal history, whether the child was SGA or history of neonatal hypoglycemia, medication review for stimulant meds or glucocorticoid medications.

Question 5

What are some of the salient features to look for on physical exam that may help with the diagnosis of a child with short stature?

Answer 5

High-pitched voice and immature facial features may indicate growth hormone deficiency
Midline defects may indicate pituitary pathology
Micropenis may be associated with congenital growth hormone deficiency
Low-set ears, and webbed neck, increased carrying angle and Madelung deformity may indicate turner syndrome
Goiter may indicate hypothyroidism

Question 6

What is the ideal time interval to calculator measure growth velocity?

Answer 6

+At least every 6 months or longer would be ideal

Question 7

What are the normal growth rates or velocity for various ages of childhood?

Answer 7

Intrauterine growth: Depends on maternal nutrition and intrauterine factors.
Growth during the first 2 years of life: About 30 to 35 cm in total and may cross several percentage lines
Growth between ages 2-3 and puberty: About 5 to 6 cm/year
Pubertal growth spurt and girls: Occurs early and pubertal development with a peak velocity of 8 to 10 cm/year reaching final height at 14 years
pubertal growth spurt in boys. Occurs late in puberty reaching approximately a velocity of 10 cm/year. Typically reaching final height at 16 to 17 years

Question 8

What constitutes abnormal growth rates in children for various ages?

Answer 8

Age 2 to 4 years: Less than 5.5 cm/year
Age 4 to 6 years: Less than 5 cm/year
Age 6 years through puberty: Less than 4 cm/year for boys and less than 4.5 cm/year for girls

Question 9

How is the mid parental height calculated, and how is it useful?

Answer 9

To calculate mid parental height average the parents heights together and add or subtract 5 inches, it can be a rough guide in determining if the child is on track or not.

Question 10

What radiologic test should be obtained in a child with short stature and how was it interpreted?

Answer 10

A bone age film of the left hand, a discrepancy of up to 2 years between patient’s age and actual age is normal. Patients with short stature due to constitutional delay and have bone age is of greater than or equal to 2 years younger.

Question 11

What are some of the diseases that lab tests can help with making a diagnosis and a child with short stature?

Answer 11

Lab eval for chronic diseases should include CBC with differential, CMP, urinalysis, sed rate and celiac testing (IgA and tissue transglutaminase antibody levels), Hypothyroidism: Free T4 and TSH
Growth hormone deficiencies: IGF-I and IGFBP-3 levels

Question 12

For females with short stature what genetic test should be obtained?

Answer 12

A karyotype to rule out turner syndrome (a female with mosaic Turner syndrome may not have typical physical findings other than short stature)

Question 13

In a patient who has disproportionate short stature or relatively short limbs for the length of the trunk what genetic test should be obtained?

Answer 13

Genetic testing for SHOX deficiency or, types of skeletal dysplasias such as achondroplasia or hypochondroplasia

Question 14

What is the typical height curve analysis over time for a patient with genetic short stature?

Answer 14

Born with normal length, then downwardly cross percentiles until they reach genetically determined percentile at age 2 then growth normally or at normal velocity from there. Bone age is neither advanced nor delay and they start puberty normal time.

Question 15

What is the typical height curve analysis over time for a patient with constitutional delay of growth and puberty?

Answer 15

Normal birth length and then cross percentile channels downwardly initially. They have a normal growth velocity from 2 or 3 years of age until puberty. They have delayed bone age is and start puberty late and reached their final adult height after their peers are classmates..

Question 16

What is the typical height curve analysis over time for a patient with hypothyroidism?

Answer 16

Normal growth until the hypothyroidism develops then they have abnormally slow growth velocity. (They may have symptoms of fatigue, and constipation, dry skin, dry hair, and cold intolerance. A bone age will be delayed)

Question 17

What is the typical height curve analysis over time with the patient with growth hormone deficiency?+

Answer 17

For growth hormone deficiency later in childhood the growth velocity T will initially be normal and then slow after the growth hormone deficiency develops. Clues for physical findings in infants with growth hormone deficiency may include midline defects, micropenis, visual impairment, neonatal hypoglycemia and hyperbilirubinemia, direct hyperbilirubinemia. MRI may be necessary to find other acquired causes for growth hormone deficiency.

Question 18

What is the typical height and weight growth curve analysis over time with the patient who has celiac, malabsorption, or or inadequate calorie intake?

Answer 18

These patients are underweight for age, growth charts will reveal initially weight loss then followed by slowing of the growth velocity. (In individuals with celiac or inflammatory bowel disease they may complain of abdominal pain, bloating and have abnormal bowel movements)

Question 19

What Are the salient features of a girl with Turner syndrome?

Answer 19

Short stature and pubertal delay, they may have low-set ears, webbed neck, high arched palate, “shield chest “, increased carrying angle, Madelung deformity of the wrist. Cognitively they can have challenges with executive functioning, visual-spatial skills and struggles in school. There may be comorbid heart and kidney disease.