How to work up short stature in Children .ppt

How to work up short stature in Children

1. SHORT STATURE IN CHILDREN

2. Definition:
•Height below 3
rd
centile or more than 2 standard
deviations below the median height for that age &
sex according to the population standard.
•Height velocity less than 25
th percentile for age, sex
and reference population
•Around 3% of the population will be of short stature
according to definition.

3. PLOTTINGHEIGHT ON
A GROWTH CHART
•6 years old boy
•Height: 102 cm
•Draw an imaginary line
along the X axis till the age
‐
(6y) of the child
•Then extend the imaginary
line along the Y axis till the
‐
height (102 cm) of the child.
•Mark the point

4. CALCULATION OF
HEIGHT AGE AND
WEIGHT AGE
A 6 years old boy
Height: 102 cm
Weight: 22 kg
Ht age: 4 years
Wt. Age: 8 years

5. MID- PARENTAL HEIGHT(MPH)
•Determines the genetic potential
•For boys
•Mid parental height: (MH+FH)/2 + 6.5cm
•For girls
•Mid parental height: (MH+FH)/2 – 6.5cm
•Target range: MPH±6 cm.

6. MID- PARENTAL HEIGHT
•Height of a boy: 103 cm
•Father’s height: 160 cm
•Mother’s height: 147 cm
•Mean parental height(boy): (MH+FH)/2 + 6.5cm
•Target range: 160 ± 6cm (154 166 cm)
‐

7. PLOT MPH AND TARGET
RANGE ON GROWTH CHART
•Extend 6 cm above and below
from MPH point: Target range
•Extend an imaginary line
backwards from the lower end
of the target range till reaches
the patient’s height
•If a short child’s height is
above this line then child is
familial short stature and if
below then child is
pathological short stature

8. BONE AGE (BA)
•Should be done in all children with short stature.
•Evaluated by appearance of epiphysis & fusion of
epiphysis with metaphysis.
•Conventionally X-ray of left hand & wrist is used.
•BA can be determined using Gruelich-Pyle atlas or
Tanner- Whitehouse method.

11. •Chronological age (CA)
•Height age (HA)
•Weight age (WA)
•Bone age (BA)

12. Significance of BA
•BA gives idea about proportion of adult height
achieved.
•BA<CA in almost all causes of short stature
•BA=CA in familial short stature
•BA>CA in precocious puberty

13. Assessment of child with short stature
•Accurate height assessment
•Assessment of body proportions
•Assessment of height velocity
•Comparison with population norms
•Comparison with child’s own genetic potential
•Sexual maturity rating

14. Assessment of a child with short stature

1) Accurate height measurement

Below 2 yrs- supine length with
infantometer
For older children- Stadiometer

15. MEASUREMENT OF LENGTH
Length of children< 2yrs are
measured by infantometer.

16. MEASUREMENT OF LENGTH
•After 23 years of age, height should
‐
be measured by stadiometer.
•Child should stand erect, with
occiput, shoulders, buttocks, and
heels touching the vertical bar.
•Look straight (Frankfort’s plane
parallel to floor)
•Horizontal bar is lowered to the
vertex of the child and take reading.

17. 2) Assessment of body proportion
Upper segment: Lower segment ratio
Comparison of arm span
with height

18. •Upper segment: Lower segment ratio
•Measure lower segment from tip of
symphysis pubis to floor.
•Subtract lower segment from height to
get upper segment.

19. •LS : measure from the symphysis pubis to the floor.
•US : subtract the LS from the height.
•U/L Birth = 1.7
•U/L 3 years = 1.3
•U/L 7 years = 1
•Proportionate (involves both the trunk and the
lower extremities)
•Disproportionate (involves one more than the other)

20. MEASUREMENT OF ARM SPAN
Distance between the tips of middle fingers when the
arms are out stretched parallel to the floor.

21. 3) Assessment of height velocity
Rate of increase in height over a period of time,
expressed as cm/year
If low – pathological cause of short stature

4) Comparison with population norms
Height plotted on appropriate growth charts &
expressed as centile or SD score

22. Height velocity
YEAR
•1
•2
•3,4
•5,6
•7 – puberty
•Mid- puberty
INCREMENT (in cm)
•25
•10
•7
•6
•5
•9-10.3

24. 5) Comparison with child’s own genetic potential

Mid parental height for boys
= mother's height + father's height /2 + 6.5cm
Mid parental height for girls
= mother's height + father's height /2 – 6.5cm

6) Sexual maturity rating ( SMR):
•Also known as Tanners stages
•Used in older children
•Total 5 stages included in each gender

25. Males:
SMRPubic Hair
•Stage 1Preadolescent
•Stage 2Scanty, long, slightly pigmented, primarily at
base of penis
•Stage 3Darker, coarser, starts to curl, small amount
•Stage 4Coarse, curly; resembles adult type but covers
smaller area
•Stage 5Adult quantity and distribution, spread to medial
surface of thighs

26. SMR 
          Genitals
Penis Testes
•Stage 1Preadolescent Preadolescent
•Stage 2 Slight or no Beginning enlargement
enlargement of testes and scrotum; scrotal
skin reddened, texture altered
•Stage 3 Longer Further enlargement of
testis and scrotum
•Stage Larger in breadth, Testes & scrotum nearly
glans penis develops adult

•Stage 5 Adult Adult

27. SMR Females
SMR Pubic Hair
•Stage 1 Preadolescent
•Stage 2 Sparse, slightly pigmented, straight, at medial
border of labia
•Stage 3 Darker, beginning to curl, increased amount
•Stage 4 Coarse, curly, abundant, but amount less than in
adult
•Stage 5Adult feminine triangle, spread to medial surface
of thighs

28. SMR Breasts
•Stage 1Preadolescent; elevation of papilla only
•Stage 2Breast and papilla elevated as small mound;
areola diameter increased
•Stage 3Breast and areola enlarged with no separation of
their contours
•Stage 4Projection of areola and papilla to form
secondary mound above the level of the breast
•Stage 5Mature; projection of papilla only, areola has
recessed to the general contour of the breast

Tanner JM. 1962. Growth at Adolescence (2nd ed.). Oxford, England: Blackwell
Scientific Publications.

29. •SMR should be assessed in older children.
Short stature:
•Precocious puberty – due to early epiphseal fusion.
•Delayed puberty – as growth spurt is delayed.

30. HEIGHT VELOCITY
•A boy grows from 119 to
122 cm from 8 to 8.5y
•Grown 3 cm in 1/2 year
•Growth velocity: 6cm/y
•75
th and 90
th percentiles
•Height velocity < 25
th centile is abnormal

31. What we know so far
•Definition
•MPH
•CA,HA,WA,BA
•Auxology
•SMR
•Height velocity pattern and chart

32. SHORT STATURE
•PHYSIOLOGICAL
•CDG
•Familial
•PATHOLOGICAL
•Nutritional
•Endocrine
•Genetic
•SGA babies
•Chronic diseases
•psychosocial

33. Short
stature
Proportionat
e
Idiopathi
c
secondar
y
Disproportiona
te
Short
Limbs
Short
Trunk

34. Causes Of Short Stature:
A)Proportionate Short Stature
1) Normal Variants:
i) Familial
ii) Constitutional Growth Delay
2) Prenatal Causes:
i) Intra-uterine Growth Restriction-
Placental causes, Infections,Teratogens
ii) Intra-uterine Infections
iii) Genetic Disorders (Chromosomal
& Metabolic Disorders)

35. 3) Postnatal Causes:
i) Undernutrition
ii) Chronic Systemic Illness
- Cardiopulmonary: CHD, Chronic Asthma,
Cystic Fibrosis
- Renal: RTA, CRF, Steroid dependent
Nephrotic Syndrome
- GI and Hepatic: Malabsorption, IBD, chronic
liver disease
- Chronic Severe Infections
- Hematological : Thalassemia, Sickle cell
anemia

36. iii) Psychosocial Short Stature
(emotional deprivation)
iv) Endocrine Causes:
- Growth Hormone Deficiency/ insensitivity
- Hypothyroidism
- Juvenile Diabetes Mellitus
- Cushing Syndrome
- Pseudohypoparathyroidism
- Precocious/ delayed puberty

37. B) Disproportionate Short Stature
1) With Short Limbs:
- Achondroplasia,
Chondrodysplasia punctata,
Chondroectodermal Dysplasia,
Diastrophic dysplasia, Metaphyseal
Chondrodysplasia
- Osteogenesis Imperfecta,
Refractory Rickets
2) With Short Trunk:
- Spondyloepiphyseal dysplasia,
Mucolipidosis, Mucopolysaccharidosis
- Caries Spine, Hemivertebrae

38. Diagnosis
•Detailed history
•Careful examination
•Laboratory evaluation

39. Clues to etiology from history
History Etiology
History of delay of puberty in parents

Low Birth Weight
Neonatal hypoglycemia, jaundice, micropenis

Dietary intake
Headache, vomiting, visual problem
Lethargy, constipation, weight gain
Polyuria,polydipsia
Social history
Diarrhea, greasy stools

40. Clues to etiology from history
History Etiology
History of delay of puberty in parentsConstitutional delay of growth

Low Birth Weight SGA
Neonatal hypoglycemia, jaundice, micropenis GH deficiency

Dietary intake Under nutrition
Headache, vomiting, visual problem Pituitary/ hypothalamic SOL
Lethargy, constipation, weight gain Hypothyroidism
Polyuria, polydipsia CRF, RTA
Social history Psychosocial dwarfism
Diarrhea, greasy stools Malabsorption

41. Pointers to etiology of short stature
Pointer Etiology
Midline defects, micropenis, Frontal bossing,
depressed nasal bridge, crowded teeth,
Rickets
Pallor
Malnutrition
Obesity
Metacarpal shortening
Cardiac murmur
Mental retardation

42. Pointers to etiology of short stature
Pointer Etiology
Midline defects, micropenis, Frontal bossing,
depressed nasal bridge, crowded teeth,
GH deficiency
Rickets Renal failure, RTA, malabsorption
Pallor Renal failure, malabsorption, nutritional
anemia
Malnutrition PEM, malabsorption, celiac disease, cystic
fibrosis
Obesity Hypothyroidism, Cushing syndrome, Prader
Willi syndrome
Metacarpal shortening Turner syndrome, pseudohypoparathyroidism
Cardiac murmur Congenital heart disease, Turner syndrome
Mental retardation Hypothyroidism, Down/ Turner syndrome,
pseudohypoparathyroidism

43. Clues to etiology from examination
Examination finding Etiology
Disproportion
Dysmorphism
Hypertension
Goitre, coarse skin
Central obesity, striae

44. Clues to etiology from examination
Examination finding Etiology
Disproportion Skeletal dysplasia, rickets
Dysmorphism Congenital syndromes
Hypertension CRF
Goitre, coarse skin Hypothyroidism
Central obesity, striae Cushing syndrome

45. Investigation:
Level 1 ( essential investigations):
•Complete hemogram with ESR
•BONE AGE
•Urinalysis ( Microscopy, pH, Osmolality)
•Stool ( parasites, steatorrhea, occult blood)
•Blood ( RFT, Calcium, Phosphate, alkaline
phosphatase, venous gas, fasting sugar, albumin,
transaminases)

46. Level 2:
•Serum thyroxine, TSH
•Karyotype to rule out Turner syndrome in girls.
If above investigations are normal and height between -2
to -3 SD Observe height velocity for 6-12 months.
If height < 3SD level 3 investigations.

47. Level 3:
•Celiac serology ( anti- endomysial or anti- tissue
transglutaminase antibodies)
•Duodenal biopsy
•GH stimulation test with Clonidine/Arginine/glucagon/
insulin/GHRH/Dopamine.
•serum insulin like IGF-1,IGFBP-3 levels.
•MRI brain if low GH levels.
•Skeletal survey in all patients with disproportionate
short stature.

48. FAMILIAL SHORT STATURE
•MPH < 3
rd percentile for
reference population
•Normal tempo of puberty
•Normal height velocity
•CA=BA>HA
•Final height is < 3
rd centile
for reference population
but within target range

49. CONSTITUTIONAL DELAY IN GROWTH
AND PUBERTY
2
4
•Normal MPH
•Family h/o delayed
puberty
•BA=HA<CA
•Normal height velocity
•Delayed puberty
•Normal final height

50. Comparison
Feature Familial Short Stature Constitutional Short Stature
1) Sex Both equally affected More common in boys
2) Length at Birth Normal Normal (starts falling <5
th

centile in 1
st
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 & Chronological
Age
BA = CA > Height Age CA > BA = Height Age
8) Final Height Short, but normal for target
height
Normal

51. Intra-uterine Growth Restriction
•Arrest of fetal growth in early embryonic life causes
reduction in total number of cells, leading to diminished
growth potential in postnatal life
•BW <10
th
centile for gestational age
•Most of these babies show catch-up growth by 2yrs of
age, but 20-30% may remain short
•Subtle defects in the GH-IGF axis are considered to be
responsible
•Growth Velocity is normal
•BA = CA
•Learning disabilities could be present

52. Genetic Syndromes:
A)Chromosomal Disorders
- Turner syndrome ( XO) :
an incidence of 1 in 2000
live births
- should be ruled out even
if typical phenotypic
features are absent
- Other e.g.: Down, Noonan, Prader-Willi,
Silver- Russel.
B) Inborn Errors of Metabolism
-eg. Galactosemia, Aminoaciduria

53. Under nutrition:
•One of the commonest cause of short stature in India
•Protein Energy Malnutrition, anemia and trace
element deficiency such as Zinc def are common
causes
•Weight gain is slow and muscles are wasted. Long
standing malnutrition leads to Stunting
•BA < CA
•Diagnosis: good dietary history, anthropometric
measurements

54. Chronic Systemic Illness:
1)Chronic Infections
-eg:TB, Malaria, Leishmaniasis, Chr. pyelonephiritis
- Growth retardation is due to impaired appetite,
decreased food intake, increased catabolism,
poor utilization of food, vomiting & diarrhoea.
2) Malabsorption Syndromes
- eg: chronic recurrent infective diarrhoea, lactose
intolerance, cystic fibrosis, celiac disease,
giardiasis, cow’s milk allergy,
abeta lipoproteinemia

55. 3) Birth defects:
CHD, urinary tract & nervous system anomalies

4) Miscellaneous:
Cirrhosis of liver, bronchiectasis, acquired
heart diseases, cardiomyopathies.
5) RTA,DI,DM.

56. Skeletal dysplasias:
•chondrodysplasias
•Inborn error in formation of
components of skeletal system
causing disturbance of cartilage
& bone
•Abnormal skeletal proportions
& severe short stature
•Diagnosis-
family history, measurement of
body proportions, examination of limbs & skulls, skeletal
survey

57. Endocrine causes:
Human growth hormone deficiency
Normal birth size
Midfacial hypoplasia
Depressed nasal bridge
Micropenis
Frontal bossing
Height age<weight age
Neonates – hypoglycemia/prolonged jaundice
Bone age is delayed
Body proportions are normal.

- Diagnosis: hGH levels in sleep & after provocation
with clonidine, insulin, propranolol
- hGH>10ng/ml excludes hGH deficiency

58. Hypothyroidism
Birth size normal
Sluggishnes,feeding difficulty
Large tongue,large abdomen
Poor appetite
Umbilical hernia
Cold &mottled extremities
Wide open ant and post fontenelle
Short stature, bone age delayed
Myxoedema
Diagnosis- Low T4 levels, high TSH levels

59. Psychosocial short stature:
•Emotional deprivation dwarfism /maternal deprivation
dwarfism/hyperphagic short stature
•Functional hypopituitarism
•Low IGF-1 levels & inadequate response to GH
stimulation
•Good catchup growth in less stressful environment

60. MANAGEMENT
Systemic diseases: Disease directed therapy
•Thalassemia Major: Blood Transfusion

•Malnutrition: Nutritonal rehabilitation
•Nutritional rickets: Vitamin D
•Distal RTA: Shohl’s solution
•Celiac disease: Gluten free diet
•Psychosocial dwarfism: Good social environment.

61. Endocrine disorders
•Primary hypothyroidism: Thyroxine
•Endogenous Cushing syndrome: Tumorectomy
•Panhypopituitarism: GH, Thyroxine,
sex steroids, Glucocorticoid.

62. Indications for GH therapy

63. •Monitoring with regular & accurate recording
of height is mandatory for a good outcome in
any form of therapy.

64. FAILURE TO THRIVE

65. Failure to Thrive
•Not a diagnosis - a descriptive term.
•Used for infants and children upto 5years
of age.

66. Criteria
•Weight below 3
rd
or 5
th
centile.
•Failure to gain weight over a period of time.
•Change in rate of growth that has crossed two
major percentile lines.
Eg. 75
th
to 50
th
over a period of time.

68. Classification
Organic vs. Non-Organic
•Not a helpful distinction
•Both overlap

69. Causes- Non organic
•Poverty
•Lack of breast feeding
•Feeding diluted formula
•Lack of knowledge about diet and feeding
•Dysfunctional parent child relationship.

70. Organic causes
Cardiopulmonary : CHD, Chronic Asthma,
Cystic Fibrosis
Renal : RTA, CRF
GI and Hepatic : Malabsorption, IBD, GER,
chronic liver disease
Endocrine : Hypothyroidism, DM
Infections : HIV, TB
Hematological : Thalassemia, Sickle cell anemia
Neurological : Mental retardation,Cerebral palsy
Genetic : IEM,Chromosomal anomalies

71. Normal Growth
Food
(calories)Waste
MetabolismGrowth

72. Causes of FTT
•Inadequate calories
•Inability to utilize calories
•Increased caloric needs
More than one of these causes can overlap!!

73. Inadequate Calories
•Lack of knowledge
•Behavior
•Psychosocial
•Anatomic

74. Inability to Utilize Calories
Improper utilization
•Inborn errors of metabolism
•Storage disorders
•Growth hormone deficiency

75. Inability to Utilize Calories
Malabsorption
•Milk protein allergy
•Cystic fibrosis
•Pancreatic insufficiency
•Biliary atresia
•Short gut or necrotizing enterocolitis
•Inflammatory bowel disease
•Chronic diarrhea
•Disaccharidase deficiency

76. Increased Caloric Needs
•Prematurity
•Recurrent infection
•Cardiac disorders
–Congenital heart
disease, heart
failure
•Pulmonary disorders
–Chronic lung
disease, poorly
controlled asthma
•Cancer
•Kidney problems
–Renal tubular
acidosis, chronic
renal failure
•Chronic liver disease
•Obstructive sleep
apnea
•Chronic infection (HIV,
Tuberculosis)

77. Evaluation & Management
•History
•Physical exam
•Laboratory testing
•Treatment

78. History
•Prenatal/Birth
•Medical history
•Surgical history
•Medications
•Allergies
•Symptoms
•Development
•Family history
•Social history
•Diet history
•Three day food
diary

79. Physical Exam
•Weight, height, head circumference
–Standing height after 2 years of age
•Complete physical exam
•Observe parent-child interaction
•Observe feeding
•Signs of neglect
–Hygiene, teeth, diaper area

80. Laboratory Studies
•Focused lab evaluation
•Common labs include:
–Complete blood count with ESR
–Electrolytes
–RFT,LFT
–Urinalysis
–Thyroid studies
–Sweat test (cystic fibrosis)

81. Multidisciplinary Teams
•Best way to address FTT
•Medical Provider
•Dietician
•Social Worker
•Visiting nurse
•Occupational therapy
•Developmental specialist

82. Treatment: Aimed at
Cause of FTT
•Dietary changes
–Increase calories
•Behavioral changes
–Scheduled, structured mealtimes
•Home visit
–Document weight, check in with family,
observe home dynamics
•Hospitalization
–Severe cases, suspected abuse, failure of
outpatient treatment.

83. Hospitalization in FTT
•Indication :
–Severe malnutrition
–Serious illness/medical problems requiring
investigation.
–Failure to respond to outpatient management
–Suspected child abuse or neglect.

84. Outcomes
•Depends on case
•Prognosis on growth typically good;if managed early.
•Outlook for cognitive deficits, learning disability,
behavioral problems – variable.