This document discusses short stature in children. It defines short stature and outlines its causes, which can be non-endocrine such as malnutrition or psychological issues, or endocrine such as growth hormone deficiency, hypothyroidism, or Cushing's syndrome. The document also describes evaluating a child for short stature, which involves assessing growth charts, bone age, blood tests, and growth hormone stimulation tests. Treatment involves treating the underlying cause, such as using growth hormone for growth hormone deficiency.
3. Growth Hormone
• Growth hormone (GH) secretion is pulsatile, stimulated by hypothalamic GH-
releasing factor (GRF), and several other factors (e.g., ghrelin, sex steroid
hormones, clonidine, hypoglycemia, etc.).
• And inhibited by GH release inhibitory factor (somatostatin, somatotropin release
inhibiting factor [SRIF]).
• GH is circulates bound to a GH-binding protein (GHBP).
• Secreted in pulsatile fashion, with peak in levels at night corresponding with
onset of sleep.
4. GH has direct effects on:
• Production and secretion of
insulin-like growth factor-1 (IGF-1) in
the liver along with IGF-binding
protein (IGF-BP3).
5. • IGF-1 is a paracrine and autocrine agent and is associated with postnatal growth.
And is influenced by disease states such as malnutrition, chronic renal and liver
disease, hypothyroidism, or obesity.
• Measuring IGF-1 and IGF-BP3 is useful in evaluating GH adequacy, particularly in
infancy and early childhood
6. Case
History
Farah is a 4-year-old girl brought to the clinic by her mother, who is worried about her
daughter’s growth. She has noticed that her shoe size has not changed for almost 12
months and she is still in clothes for a 2- to 3-year-old.
What questions would you like to ask?
• She was born at 38 weeks by normal delivery, weighed 2.1 kg.
• Her mother tried breast-feeding but she was never easy to feed, even with a bottle.
• She is generally healthy, apart from recurrent ear infections that have needed grommet insertion.
• She wears glasses for long-sightedness.
• Her development is normal, although Kindergarten staff have reported that she seems to have poor
concentration.
7. What is Growth?
• Normal growth is the result of
many factors, including endocrine,
environmental, nutritional, and
genetic influences. And can be
considered as a measurement for
the well-being of the whole child.
• Stature itself can affect the
psychological, social, and
potentially economic well-being.
8. How can we measure growth?
By plotting the following on the growth chart:
• Height (standing) or length (lying down)
• Weight
• Mid-parental Height
Measuring:
• Arm span
• The upper-to-lower segment ratio
9. Mid-parental Height
Step 1 - Calculate Final Height prediction (mid-parental height)
• Boy
• In: (Father's Height + Mother's Height + 5) / 2
• Cm: (Father's Height + Mother's Height + 13) / 2
• Girl
• In: (Father's Height - 5 + Mother's Height) / 2
• Cm: (Father's Height - 13 + Mother's Height) / 2
Step 2 - Identify Predicted Growth Percentile
• Use above predicted mean height to mark growth chart
• Mark chart at 18-20 year old mark
• Mean Height in inches +/- 2 inches (some use 3.3 or 4 inches)
• Mean Height in centimeters +/- 5 centimeters (some use 8.3 or 10 cm)
Father is 172.72 cm
Mother is 157.48 cm
Son is 171.6 cm
Daughter is 158.6 cm
10. Short Stature
Growth failure is a sign of a slow growth rate and eventually a slow growth rate leads to short stature.
Defined as:
1. Height with 2 SD below the mean for children of the same age and sex
2. Crossing 2 percentiles
3. 2SD below mid-parental height.
4. Height velocity below the 5th percentile for age (Two accurate measurements at least 6 months but preferably a
year apart allow calculation of height velocity in cm/year)
12. Nonendocrine Causes
Chronic diseases leading to nutrition deficiency and failure to thrive (short and underweight) Inadequate
nutrition may be due to insufficient food, restricted diets or poor appetite, or from the increased
nutritional requirement from a raised metabolic rate.
Psychological difficulties, in which the child develops functional temporary GH deficiency and poor
growth as a result of psychological abuse; leading to psychosocial or deprivation dwarfism.
Constitutional delay (variation of normal growth) where the bone age is delayed, but the growth rate
remains mostly within the lower limits of normal and usually leads to a delay in secondary sexual
development and pubertal onset, a family history of delayed puberty is often present.
Familial short stature refers to the stature of a child of short parents, who is expected to reach a lower
than average height and yet normal for these parents. Bone-age X-rays may be within normal limits for
age.
13.
14. Small for gestational age and extreme prematurity: about 10% of children
born small for gestational age or who were extremely premature remain
short
Chromosomal disorders and syndromes such as :Down syndrome is usually
diagnosed at birth, but Turner syndrome may be particularly difficult to
diagnose clinically and should be considered in all short females.
Nonendocrine Causes
15. Endocrine Causes
• Hypothyroidism, GH deficiency, IGF-1 deficiency, and steroid excess are uncommon causes of
short stature.
• They are associated with children being relatively overweight (opposite to what?)
16. Hypothyroidism
• This is usually caused by autoimmune thyroiditis during childhood, when treated,
catch-up growth rapidly occurs but often with a rapid entry into puberty that can limit
final height.
• Congenital hypothyroidism is diagnosed soon after birth by neonatal biochemical
screening and with treatment does not result in any abnormality of growth.
18. Growth Hormone Deficiency
• Classic congenital or idiopathic GH deficiency occurs in about 1 in 4,000 children
• Infants with congenital GH deficiency achieve a normal or near-normal birth
length and weight at term, but the growth rate slows after birth, most noticeably
after age 2-3 years.
• An elevated weight-to-height ratio.
19. Growth Hormone Deficiency
• A patient with classic GH deficiency has the appearance of
a cherub (a chubby, immature appearance), with a high-
pitched voice resulting from an immature larynx. the
patient has normal intellectual growth and age-appropriate
speech.
20. Case
Examination
• She is generally healthy and certainly well nourished.
• The GP notices wide-spaced nipples and a low hairline but can find no
other obvious abnormalities.
21. Diagnosis
Are there features that suggest that this is a normal variant of short stature?
Are there features suggesting pathologic growth failure?
• Basic evaluation: History, physical examination, and bone age determination.
• In familial short stature, height velocity (HV) and bone age are within the normal
range and one or both parents are short.
• In CDGP, bone age is delayed. There is often a family history of delayed growth
and/or puberty.
22. Diagnosis
• Family or other medical history (chronic disease)
• Metabolic panel to evaluate kidney and liver function
• Complete blood count (CBC) to rule out anemia
• Celiac panel to rule out celiac disease
• Erythrocyte sedimentation rate (ESR)
• Thyroid function testing, and IGF-1, IGFBP-3 for children under age 3 years.
• A urine study to assess renal function and evaluate for renal tubular acidosis.
• In a girl, a karyotype to rule out Turner syndrome.
• An X-ray to establish bone age and skeletal maturation.
If chronic disease or familial short stature are ruled out and routine laboratory testing is normal.
2 GH stimulatory tests
23. GH Provocative test ( Stimulatory test)
• Random sample is insufficient to diagnose !
• A normal response is a vigorous secretory peak after stimulation; the
lack of such a peak is consistent with GH deficiency.
24. GH Provocative test ( Stimulatory test)
Normal 10 ng/ml
Classical GHD Nill – less than 3 ng/ml
Partial GHD 8-10 ng/ml
27. Bone Age
• Bone age estimation with a standard PA view of the hand and wrist
could be used for evaluation and serial measurements are also used
to assess the effectiveness of treatments.
• Various methods have been developed to compute bone age score
from these radiographs by comparing the maturity of hand & wrist
bones to idealized standards.
28.
29. Treatment
• Treat underlying cause
• GH deficiency is treated with biosynthetic recombinant DNA derived
GH.
• Treatment with GH carries the low risk of an increased incidence of
slipped capital femoral epiphysis, especially in rapidly growing
adolescents, and of pseudotumor cerebri.
32. References
• Marcdante, Karen J.Nelson, Waldo E. (Eds.) (2011) Nelson essentials
of pediatrics /Philadelphia, PA : Saunders/Elsevier, Chapter 173, Page
650 – 656.
• Tschudy, Megan M.Arcara, Kristin M. (Eds.) (2012) The Harriet Lane
handbook :a manual for pediatric house officers Philadelphia, PA :
Mosby Elsevier.
• Lissauer, T., Clayden, G., & Craft, A. (2012). Illustrated textbook of
paediatrics. Edinburgh: Mosby, Chapter 12, Page 199-204.
Editor's Notes
Arm span is used to diagnose Marfan or Klinefelter syndrome, short-limbed dwarfism.
Conditions of hypogonadismlead lead to greatly decreased upper-to-lower ratio in an adult, whereas long-lasting and untreated hypothyroidism leads to a high upper-to-lower ratio in the child.
such as Cushing syndrome is very unusual in childhood and may be caused by pituitary or adrenal pathology.
1: The Greulich & Pyle (GP) Atlas: Is a holistic method based on “The Radiographic Atlas of Skeletal 2: Tanner Whitehouse (TW2) Method:
Administration of GH to patients with normal GH responsiveness to secretagogues is controversial, but, as noted earlier, diagnostic tests are imperfect; if the patient is growing extremely
slowly without alternative explanation, GH therapy is sometimes used. GH is effective in increasing the growth rate and final height in Turner syndrome and in chronic renal failure; GH also is used for treatment of short stature and muscle weakness of Prader-Willi syndrome. Other indications include children born small for gestational age who have not exhibited catchup growth by 2 years of age and the long-term treatment of idiopathic short stature with height 2.25 SDs or less below the mean. Psychological support of children with severe short stature is important. Although there is controversy, marital
