approach to a child with Short stature (Growth stricture)

1. Short Stature
By:-
Jwan Ali Ahmed AlSofi

2. GROWTH
•Normal growth is dependant on:-
1. Endocrine influences
2. Environmental influences
3. Nutritional influences
4. Genetic influences.
•Importance of normal growth:-
▫ A normal linear growth pattern is good evidence of overall
health and can be considered a bioassay for the well-being of
the whole child.
▫ Stature itself influences psychologic, social, and,
potentially, economic well-being.
 Parental concern about the psychosocial consequences of
abnormal stature often causes a family to seek medical

3. Growth Hormone Physiology:-
• Is a protein.
• Secreted by the pituitary in a pulsatile fashion,
• stimulated by hypothalamic GH-releasing hormone (GHRH),
• inhibited by somatotropin release–inhibiting factor (SRIF) or somatostatin.
• GH secretion is enhanced by
1. α-adrenergic stimulation,
2. hypoglycemia,
3. stress,
4. starvation,
5. Exercise
6. early stages of sleep
7. GH-releasing peptides (GHRPs)
8. sex steroids
9. Thyroxine
10. glucocorticoids
11. Ghrelin
12. clonidine.
• It is suppressed by
1. β-adrenergic stimulation
2. hyperglycemia.

4. Growth Physiology:-
• Growth Hormone has roles in development and metabolism,
but its most prominent effect is on a child's height.
• Growth Hormone is responsible for the stimulation of
Insulin-like Growth Factor-1 (IGF) production in the
liver.
• IGF-1 is closely associated with post-natal growth, as it
stimulates physiological changes and growth effects on the cells
it binds to.
• Alternations in the production of Growth Hormone
and it’s product, Insulin-like Growth Factor-1, are a
common cause of Short Stature in the population.

5. Growth Hormone functions:-
Insulin-like growth
factor 1 (IGF-1) –
mediated functions
• Produce anabolic
actions
Non – IGF-1 –
mediated functions
• Lipolysis
• amino acid
transport in the
heart
• production of
specific hepatic
proteins.

6. Puberty
Female:-
• Age:- 8-10 yrs
• The first sign in
females is
breast
development;
Male:-
• Age:- 9-11 yrs
• The first sign in
males it is
testicular
enlargement.

7. Measuring Stature:-
• The head is held with the external
auricular meatus and outer canthus of the
eye in a horizontal plane.
• Upward pressure is applied to the
mastoid processes in order to encourage the
child to stand up straight.

8. Short Child
• Short Stature:- Any child whose height
falls
1. Below the 3rd centile for his/her
community.
2. Two standard deviations (SD)
below the mean for children of that sex
and chronologic age.
• Growth Failure:- denotes a slow
growth rate (measured as height
velocity) regardless of stature.
• A slow growth rate leads to short stature,
but a disease process is detected
sooner if the decreased growth rate is
noted before the stature becomes short.
However, occasionally a
child whose height is above
3rd centile considered as
short stature in relation to the
family patterns.

9. Growth Velocity:-
• Growth Velocity is the Growth Rate of a child.
• Growth Velocity may be abnormal long before a child’s
height falls below these values.
• This Growth Failure can be identified from the child’s height
falling across centile lines plotted on a height velocity chart.
• Plotted on a growth chart, growth failure appears as a curve
that crosses percentiles downward and is associated with
a height velocity below the 5th percentile of height
velocity for age
• This allows growth failure to be identified earlier, even though
the child’s height is still above the 2nd centile.
• Child should be checked every visit, every year or every 6
months and by plotting on his chart.

10. A Height Velocity
persistently below the
25th centile is Abnormal
and that child will
eventually become short.

11. Classification of Short Stature

12. Normal
Variant Short
Stature
Familial Short Stature
Constitutional
Growth Delay
(Short Stature)
Pathological
Short Stature
Disproportionate
Short Stature
Severe
Hypothyroidism
Rickets
Skeletal
Dysplasia
Proportionate
Short Stature
Pre-Natal
proportionate
Short Stature
IUGR
Placental
Diseases
Infections
Teratogens
Dysmorphism
Chromosomal
Disorders
Post-Natal
proportionate
Short Stature
Malnutrition
Chronic Systemic
Diseases
Causes
of
Short
Stature

13. There are three
colors; green and
blue are both
normal.
While the red one is
pathological one.

14. Steps in approaching a child with short stature
1. Take the chronological age
2. Plot the height on the chart – height age
• Height-for-age is an index used to assess how a child's height compares to the expected
height of a healthy child of the same age and sex based on theWHO 2006 Child Growth
Standards.
3. Plot the height velocity –
4. US/LS Ratio
5. Determine the bone age
• X-rays of the left hand and wrist to determine bone age
6. Puberty growth
7. Take a systemic history
8. Family history
9. Perform a systemic examination
10. Do screening tests

17. 1. Familiar Short Stature
2. Constitutional Short Stature

18. 1. Familial Short Stature
• Height at or below 3rd centile
• Annual Growth Rate is normal
• No systemic or endocrine disease
• Pubertal Growth Spurt at normal age
• Bone Age equal to Chronological Age
• Ancestors relatively short
• Treatment is not more than explanation and reassurance.

20. 2. Constitutional Short Stature
• It is a variation of the normal timing of puberty rather than an
abnormal condition.
• Most common in Male.
• These children have delayed puberty, which is often familial,
usually having occurred in the parent of the same sex
• The length and the weight of the affected child are normal at birth and for
the 1st 4-12 months of age, then the growth decelerates to below 3rd
centile.
• By 2-3 years of age, the growth resumes at normal rate of 5 cm/year or
more. (Eventually the target height will be reached)
• An affected child will have delayed sexual changes compared with his peers
• Growth Hormone is within normal limit.
• Growth velocity is normal.
• The legs will be long in comparison to the back.
• On X-Ray, Bone Age consistent with height age but not with
chronological age (so Delayed Bone Age for chronological age)
• Rx:-
1. Reassurance.
2. The onset of puberty can be induced with androgens or oestrogens.

22. Feature
Familial Short
Stature
Constitutional Short
Stature
1) Sex Both equally affected More common in boys
2) Length at Birth Normal Normal (starts falling <5th
centile in 1st 3yrs of life)
3) Family History Of short stature Of delayed puberty
4) Parents Stature Short (one or both) Average
5) Height Velocity Normal Normal
6) Puberty Normal Delayed
7) Bone Age and
Chronological Age
CA > Height Age
CA = BA
BA > Height Age
CA > Height Age
CA > BA
BA = Height Age
8) Height prognosis Poor Good
9) Final Height Short, but normal for target
height
Normal

24. 2. Disproportionate Short Stature (abnormal U/L
ratio):-
US>LS (short limbs) –
• Rickets
• Vitamin D deficiency
• Achondroplasia
• Short Limb
• Dwarfism
• AD
• +/- Hydrocephalus
• Normal IQ
• Normal Life span.
• Hypothyroidism
US<LS (short trunk) –
Storage diseases
• Mucopolysaccharidosis
(MPS)

27. 2. Proportionate Short Stature
Pre-Natal
1. Intra-Uterine Growth Restriction
2. Extreme Pre-Maturity
3. Patau Syndrome
▫ Trisomy 13, presents with small hand, cleft lip, clenched hands, and
undescended abnormal testis.
4. Edward Syndrome
▫ Trisomy 18, presents with small mouth and jaw, short neck, short
prominent sternum, flexed big toe.
5. Down Syndrome
6. Turner Syndrome
▫ Presents with broad chest and webbed neck.

36. Post-Natal
A. Diseases of a Major Organ or Metabolism
1. Asthma
2. Renal disease
3. Congenital heart disease
4. Diabetes mellitus
5. Chronic anemia
6. Mental retardation

37. B. Nutritional Disorders
1. Kwashiorkor
 Edematous Malnutrition  Protein Deficiency
2. Marasmus
 All nutrients are deficient  Calorie Deficiency
3. Inadequate Intake
a. Renal Disease
b. Infections
c. Psychological Disturbances, such as anorexia nervosa and
depression.
4. Chronic Intestinal Disease
a. Cystic Fibrosis
b. Celiac Disease
a. Celiac disease should be considered in any child with chronic
abdominal complaints, short stature, poor weight gain, or delayed
puberty.
c. Crohn Disease

41. C. Endocrinological Disorders
1. Primary Hypothyroidism (congenital and acquired (autoimmune
thyroiditis))
2. Corticosteroid (Glucocorticoids) Excess
 Iatrogenic Cushing Syndrome: due to steroid therapy.
 Non-Iatrogenic Cushing Syndrome: may be due to pituitary
or adrenal pathology.
3. Hypopituitarism
4. Growth Hormone Resistant
 Laron Syndrome –dwarfism : defective growth hormone
receptors resulting in growth hormone insensitivity. Patients with
Laron have high growth hormone levels, but low levels of it’s
active product, Insulin-like Growth Facto 1 (IGF-1).
5. Idiopathic Growth Hormone Deficiency

43. Children with Nutritional/chronic illness are usually short
and underweight: i.e. their weight is on the same or a lower
centile than their height.
Endocrine disorders are associated with children being
relatively over-weight, i.e. their weight on a higher centile than
their height.

44. Congenital Hypothyroidisms
• Which may be sporadic for familial goitrous or non-goitrous.
• The hormonal deficiency is severe and signs with
symptoms developed in early weeks of life, so it is diagnosed soon
after birth.
• Due to the early diagnosis and as a result, the early treatment, it will NOT
result in abnormal growth.

45. Clinical Features include:
1. Prolonged Neonatal Jaundice
2. Feeding Difficulty
3. Decrease Activity
4. Muscular Hypotonia
5. Large Posterior Fontanel
6. Large Tongue
7. Cold Dry Skin
8. Hoarse Cry
9. Constipation
10. Umbilical Hernia

46. Investigations:
• Screening Test of… Low T4 , High TSH correlate with
congenital hypothyroidism.
• Retardation of Bone Age can be seen by X-Ray.

48. Classic congenital
or Idiopathic GH deficiency
• Idiopathic GH deficiency, of unidentified specific etiology, is the
most common cause of both congenital and acquired GH deficiency.
▫ Classic GH deficiency refers to very reduced to absent secretion of GH;
numerous short children may have intermediate forms of decreased GH
secretion.
• Less often, GH deficiency is caused by anatomic defects of the
pituitary gland, such as pituitary aplasia or other midline defects (such
as sept0-optic dysplasia), with variable degrees of deficiency of other
pituitary functions.
• Hereditary forms of GH deficiency that affect pituitary
differentiation are the result of heterogeneous defects of the gene for GH,
GRF, or GH receptor.
• Acquired GH deficiency causing late-onset growth failure suggests the
possibility of a tumor of the hypothalamus or pituitary causing
compression of the area

49. Diagnosis of (GH) Deficiency
Clinical Findings
• Neonatal Period
1. Hypoglycemia
2. Cholestatic Jaundice
3. Micropenis
• Infancy
1. Congenital Mid-Facial Defect – dysraphism – (cleft lip, cleft
palate, single incisor, encephalocele, visual impairment)
• Childhood
1. Truncal Obesity
2. elevated weight:height ratio
3. Typical Facies: small mid face, frontal bossing, high pitched
voice(immature larynx)

50. Diagnosis of Growth Hormone Deficiency
1. Significant Short Stature
2. Height Velocity for Age
3. Delayed Bone Age
Growth Hormone Screening
1. Provocation GH test
2. IGF1 (insulin like growth factor 1)
3. IGF BP3 (binding protein 3)

51. to Short Stature

52. Diagnostic Evaluation of Short Stature
1. History
2. Physical Examination
3. Laboratory Tests
4. Radiological Tests

53. History-Taking
1. Pregnancy History:
a. Intra-Uterine Growth Restrictions
b. Asphyxia or other birth trauma
2. General History:
a. Chronic Illness
b. Psychosocial Assessments
3. Growth History:
a. Weight
b. Height
c. Growth Velocity
4. Family History
a. Parental Stature
b. Mid-Parental Height
c. Parental Pubertal Patterns

54. Physical Examination
1. Height and Weight accurately measured and plotted
2. Head circumference recorded
3. Body proportion assessed
▫ Upper:Lower segment ratio
4. Pubertal status
5. Syndrome – associated features

55. Diagnostic Tests
Initial Screening
1. CBP, ESR
2. Electrolyte
3. RFT
4. Anti-endomesial Ab
5. TFT
6. BS
7. Bone age
Further Test
1. GH tests
2. Karyotype
3. MRI of brain
Radiological Findings
1. Delayed Bone age
2. MRI of Brain
a. Absent or Hypoplastic stalk
b. Absent or Hypoplastic
pituitary

57. 57

58. 58

60. 60
• X-rays of the left hand
and wrist to determine
bone age.
• This technique allows
assessment of skeletal
maturation from the time
of appearance of the
epiphyseal centres, using a
standardized rating system.
• The child’s height can be
compared with skeletal
maturation and an adult
height prediction made.
• The ages shown are the
bone age of each X-ray.

61. Treatment of Short Stature
1. Treat Underlying Condition when possible like:
a. Replace thyroxine , Vitamin D and Phosphate.
b. Treat undernutrition.
c. Specific treatments for a known cause.
2. Growth Hormone Therapy
3. Insulin-like Growth Factor-1
4. Aromatase Inhibitors (letrozole and anastrozole)
5. GnRH
6. Testosterone

62. Growth Hormone Therapy
Dose: 0.18-0.30 mg/kg/week Subcutaneous Injection
Indications for Growth Hormone Therapy:
1. Childhood GH deficiency
2. Adult with GH deficiency
3. Intra-Uterine Growth Restriction
4. Growth failure associated with chronic renal
disease before transplantation
5. Prader-Willi syndrome,
6. SHOX gene abnormality,
7. Turner syndrome
8. Noonan syndrome.

63. Side-Effects of Growth Hormone Therapy
• Short-Term
1. Intracranial Hypertension –pseudotumor cerebri
2. Slipped Capital Femoral Epiphysis
3. Hypothyroidism
4. Insulin Resistant Hyperglycemia (6-fold increase in the risk for
type 2 diabetes and no significant increase in the risk for type 1
diabetes)
5. gynecomastia
6. worsening of scoliosis
New Treatments of Short statures
1. GRH Analogue
2. Recombinant Human Insulin-like Growth Factor-1 (rhIGF-1) for
Laron’s Syndrome.
3. Plastic Surgery

65. Summary
• Most common causes of short statures due to inaccurate
measurements of stature
• Short stature is a clinical diagnosis
• Detail prenatal and postnatal hx is important to reach a diagnosis
• Measurement of upper to lower segment should be checked to
diagnose disproportionate short stature
• Examining for dysmorphism is mandatary, most of chromosomal and
genetic diseases causing ST
• Detail dietary Hx and nutritional state should look it
• Stature more important than weight, while most of chronic disease
affect stature
• Most of endocrine disease causing ST.

66. Short Stature

67. Q1. A 7-year-old child presented to the outpatient clinic
because he was shorter than his friends in the class, on the
taking history the child was outcome of normal vaginal
delivery and was small for gestational age. His height was 109
centimeter below 3rd centile but it was on 50th centile for 5
years old male child, weight was 24 kilograms, was normal,
his father has history of delay puberty. The wrist x ray
revealed bone age of 5 years. What is your differential
diagnosis?
A. Malnutrition
B. Constitutional short stature
C. Turner syndrome
D. Family short stature
Answer:
B,
Constitutional
Short
Stature
as
there
is
family
history
and
delayed.

68. Q2. During a health supervision visit, a 7-year-old girl is noted
to be growing poorly. She has had a minimal increase in
height during the last 2 years, but her weight continues to
track at the 25th percentile. The mother reports that her
daughter is a picky eater but is otherwise well. The girl has no
constipation, diarrhea, or other signs of malabsorption. Her
parents are not concerned because her mother is (155 cm) tall
and her father is (168 cm) tall, and both had delayed puberty
and had growth spurts in their late teenage years. Of the
following, the MOST likely diagnosis is:
A. Crohn disease
B. Inadequate caloric intake
C. Familial short stature
D. Hypothyroidism
E. Constitutional delay of growth
Answer:
D,
Hypothyroidism.
It
is
not
constitutional
short
stature,
as
the
height
gain
should
be
normal

69. • The family brought their 11 years old for his annual
checkup They concern that their child Is shorter than
their peers In the school they have only this child,he has
no any chronic discase,his score In the school Is good;
the height Is Just below 5th centile, the scrotum Is not
enlarged and there Is scanty pubic hair mid parenteral
height Is 168cm and consanguinity Is positive His bone
age Is 9 year age.
• What Is your diagnosis

70. • The following features suggest constitutional delay as a
cause of short stature EXCEPT
A. no signs or symptoms of systemic disease
B. bone age delayed beyond the height age
C. period of poorest growth often occurring between the ages of 18
and 30
months
D. parental or sibling history of delayed development
E. height predictions consistent with family characteristics

71. • Reported side effects of GH treatment include the
following EXCEPT
A. pseudotumor cerebri
B. slipped capital femoral epiphysis
C. gynecomastia
D. worsening of scoliosis
E. 6-fold increase in the risk for type 1 diabetes

72. • Indications for GH treatment to promote growth include
the following EXCEPT
A. GH deficiency
B. chronic renal failure before transplantation
C. celiac disease
D. Prader-Willi syndrome
E. Noonan syndrome

73. Thank You
References:
• …