approach to a child with short stature ag
TRANSCRIPT
Approach To A Child
With Short Stature
Moderated by Dr. Mohd. Haseeb Sir
Presented by Dr. Akshay Golwalkar
Why we need to concern?
BECAUSE…………………..
IT CAN BE A SIGN OF DISEASE,
DISABILITY
&
A SOCIAL STIGMA CAUSINGPSYCHOLOGICAL STRESS
Definition*
Height below 3rd centile or less than 2 standard
deviations below the median height for that age &
sex according to the population standard
OR
Even if the height is within the normal percentiles
but growth velocity is consistently below 25th
percentile over 6-12 months of observation or
Excessively short for mid mid parental or target
height
Males
Age (y )
30
34
38
42
46
50
54
58
62
66
70
74
78
Hei
ght
(in)
Hei
ght
(cm
)
2 4 6 8 10 12 14 16 18 20
70
80
90
100
110
120
130
140
150
160
170
180
190
200
0
+2
+1
-1
-2
-2.0 SD (2.3 percentile)
*Essential Pediatrics, 7th Edition OP Ghai; IAP spatiality series Endocrinology 2nd edition
Approximately 3% children in any population will be short*
Approximately half will be physiological ( familial or
constitutional ) & half will be pathological short stature*
Most common cause is malnutrition in developing
countries*
Familial or constitutional is the leading cause in
developed countries*
*IAP spatiality series Endocrinology 2nd edition
Growth Physiology
Growth
Environment
HormonesGenetic factors
Dietary factors
•Growth hormone
•Thyroid hormone
•Gonadotrophins
Factors affecting height
Intra
uterine
Growth
factors
Nutrition
Thyroid harmoneGrowth Hormone
FSH
LH
GH
Thyroid
Birth 1 year 2 years 4years 8years Puberty Adult
Endocrinology of Postnatal GrowthDeficiency of thyroxin
blunts GH secretion.
GROWTH
Linear
Growth
Ponderal
Growth
Skeletal maturation
& Bone Growth
Linear Growth
Increased Growth
Velocity @ puberty
Etiology of short stature*
Physiological
– Familial
– Constitutional short stature
Pathological
– undernutrition
– Chronic systemic illness
– Hormonal deficiency states
– Psychosocial dwarfism
– SGA
– Skeletal dysplasias
– Genetic syndromes
*Essential Pediatrics, 7th Edition OP Ghai; IAP spatiality series Endocrinology 2nd edition
Familial Vs Constitutional* Feature Familial Short Stature Constitutional Short Stature
1) Sex Both equally affected More common in boys
2) Family History Of short stature Of delayed puberty
3) Height Velocity Normal Normal
4) Puberty Normal Delayed
5) Bone Age Normal Less than
chronological age
6) Final Height Short, but normal for
target
height
Normal
*IAP spatiality series Endocrinology 2nd edition
Approach to a child with short stature
History & “observation”
Anthropometric measurements
Plotting on growth chart
Physical examination
workup
History
Birth history
Nutritional history
Chronic disease history (asthma, CHD,
CLD,CRF, chronic diarrhea)
Drugs….chronic steroid therapy
Family history
History Etiology
History of delay of puberty in parents Constitutional 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 CRF, RTA
Social history Psychosocial dwarfism
Diarrhea, greasy stools Malabsorption
Clues to etiology from history
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
Pointers to etiology of short stature
1) Accurate height measurement
Below 2 yrs*- supine length with
infantometer.
Assessment of a child with short stature
*IAP spatiality series Endocrinology 2nd edition
Assessment of a child with short stature
For older children-
Harpenden Stadiometer
Height measurements
Without footwear
Heels & back touching
the wall
Looking straight ahead
Growth chartTarget centiles
Increments in Height*
Age Increase in height
Birth 50cm
1st yr age 25cm
2nd yr age 10cm
3rd yr age 7.5cm
4th yr age 5cm
5th yr age 5cm/year
*IAP spatiality series Endocrinology 2nd edition
Growth Velocity*
The most critical factor in evaluating the growth is
determining GROWTH VELOCITY.
Observation of childs height pattern in the form of
“CROSSING PERCENTILE LINES” on a linear
growth curve is the simplest method of observing
abnormal growth velocity.*
*IAP spatiality series Endocrinology 2nd edition
At least 3 measurements with preferably 6 months
interval in between is necessary to comment on
growth pattern.*
*IAP spatiality series Endocrinology 2nd edition
Growth Velocity*
Growth Monitoring*
Age Ht/Length Wt Head
circumference
Others
Birth Yes Yes Yes --
1.5, 3.5
6, 9, 15 mths
Yes Yes Yes --
1.5 to 3 yrs 6 monthly 6 monthly 6 monthly Mid arm
3.5 to 5.5 yrs 6 monthly 6 monthly --
6 to 8 yrs 6 monthly 6 monthly -- BMI & SMR
9 to 18 yrs Yearly Yearly -- BMI & SMR
yearly
*IAP spatiality series Endocrinology 2nd edition
Target height*
Target height in cm for a girl = [(mother's height
in cm + father's height in cm) /2] - 6.5 cm
Target height in cm for a boy = [(mother's height
in cm + father's height in cm) /2] + 6.5 cm
*IAP spatiality series Endocrinology 2nd edition
Short Child That Looks Normal*
Normal growth velocity Low growth velocity
Low birth weight
Growth delay
Idiopathic SS
Chronic systemic disease
Endocrine disorder
Genetic, chromosomal
Psychosocial
Calculate the
target height
Within Target RangeNot Within Target Range
Watch GV Observe – GV Normal
Assessment of body proportion
Lower segment (LS) pubic symphysis to ground
Upper segment (US) total height/length – LS
US to LS ratio is 1.7 at birth decreases by 0.1
every year to reach 1 at 7 to 10 years of age.*
*IAP spatiality series Endocrinology 2nd edition
Arm span
Upper segment: Lower segment ratio
Increase :
– Achondroplasia
– Skeletal dyspalsias
– untreated hypothyroidism
Decreases :
– Short trunk (scoliosis)
– Short neck (klippel-Feil syndrome)
– Arachnodactyly (Marfan’s, homocystinuria)
Assessment of body proportion
Physical examination
Weight measurement (fat & short….endocrine,
thin & short……under nutrition or chronic illness)
Systemic examination to rule out systemic illness
skeletal system examination including spine
Dysmorphic features
Tanner staging
Clues to etiology from examination*
Examination finding Etiology
Disproportion Skeletal dysplasia, rickets, hypothyroidism
Dimorphism Congenital syndromes
Pallor Chronic anemia, chronic renal failure
Hypertension Chronic renal failure
Frontal bossing, depressed nasal bridge,
crowed teeth, small penis
Growth hormone deficiency
Goiter, coarse skin Hypothyroidism
Central obesity, striae Cushing syndrome
*Essential Pediatrics, 7th Edition OP Ghai;
Workup for short stature
Level 1* ( essential investigations):
Complete hemogram with ESR
Urinalysis
Stool
Blood
BONE AGE
*IAP spatiality series Endocrinology 2nd edition
Bone age assessment should be done
in all children with short stature
Appearance of various epiphyseal
centers & fusion of epiphyses with
metaphyses tells about the skeletal
maturity of the child
Bone Age (BA)
What does bone age tell you?
Skeletal maturity
Correlates closely with SMR
Speaks for remaining growth potential
Helps in adult height prediction
Bone age delay of more than 2 SD i.e. about 2
years is significant
Methods of bone age assessment
Tanner White House
Greulich and Pyle
TW Method - 13 Bones
G & P Method
Patient’s film is
compared with the
standard of the
same sex and
nearest age
It is next
compared with
adjacent standard,
both older and
younger to get the
closest match
Bone age gives an idea as to what proportion of adult
height has been achieved by the child & what is remaining
potential for height gain*
BA is delayed compared to chronological age in almost all
causes of short stature*
Exceptions: Familial short stature, Precocious puberty
*IAP spatiality series Endocrinology 2nd edition
Delayed bone age
Constitutional short stature
Hypothyroidism
Celiac disease
GH deficiency
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
Workup for short stature
if Level 1 investigations are normal and bone age is delayed proceeds to
level 2*
*IAP spatiality series Endocrinology 2nd edition
HYPOTHYROIDISM
Short, stocky child, dull looking, puffy face.
Thickened skin giving myxomatous appearance,
cold intolerance.
Protuberant abdomen with umbilical hernia
Infantile sexual development & delayed puberty
Bone age markedly delayed
Diagnosis- Low T4 levels, high TSH levels*
*IAP spatiality series Endocrinology 2nd edition
HYPOTHYROIDISM
CONGENITAL
(UNTREATED):
Slow growth vel.
Delayed BA
Constipation
Mental retardation
unless treated at 2-3
months.
ACQUIRED(UNTREATED)
Asymptomatic
Delayed growth
Constipation
Normal IQ if developed
after 2yrs of age
Dry skin
Ideally every neonate should be screened for
TSH levels before discharging from nursery.*
Regardless of symptoms all children with
significant short stature should be screened for
hypothyroidism.*
Rx: thyroxine according to the age appopriate
dosage
HYPOTHYROIDISM
*IAP spatiality series Endocrinology 2nd edition
Turners syndrome
Short stature may be the only clinical
manifestation.
Karyotyping should be considered in a short
female child with pubertal delay.
SHOX gene which is required for the normal
growth is present only in a half a dose in these
children
Webbed neck
Short metacarpals
Shield shaped chest
Hyperconvex finger n toe nails
Cubitus valgus with wide carrying angle of arms
Gonadal dysgenesis with incomplete or absent puberty
No pubertal growth spurt.
Level 3*:
GH stimulation test with Clonidine or insulin & serum
insulin like GF-1 levels
Neuroimaging
Celiac serology ( anti- endomysial or anti- tissue
transglutaminase antibodies)
Duodenal biopsy
If height < -3 SD → proceeds to level 3 investigations*
*IAP spatiality series Endocrinology 2nd edition
GROWTH HORMONE DEFICIENCY(GHD)
Normal length & weight at birth.
Growth delay seen >1yr of age
BA < CA by at least 2 yrs
Normal intelligence & delayed BA.
Infantile gonadal development
Growth hormone actions
Growth Hormone
GH receptors
Liver
Synthesis of IGF1Metabolic effects
IGF receptors
Growth Hormone
GH receptors
GH receptors Liver
Synthesis of IGF1
Proliferation of Cells
Cellular growthLinear growth
Metabolic effects
(Anabolic)
IGF receptors
GROWTH HORMONE DEFICIENCY(GHD)
CONGENITAL:
-Perinatal asphyxia,
-CNS malformations
(septo optic dysplasia)
ACQUIRED
-idiopathic
-tumors
( craniopharyngioma,
glioma, germinoma)
-trauma/surgery
-cns infection/irradiation
Physical features
Cherubic face; fair complexion
Normal IQ
Frontal bossing
Midfacial crowding
Truncal obesity
Micropenis
Workup for GH def
GH deficiency is diagnosed by a low level of serum
insulinlike growth factor-1 (IGF-1) in the presence of
deficiency of 3 or more pituitary hormones*.
Patients who have deficiency of 2 or less pituitary
hormones or pituitary-hypothalamic disease with low
IGF-1 levels require stimulation tests to establish the
diagnosis of GH deficiency*.
*Hartman ML, Crowe BJ, Biller BM, Ho KK, Clemmons DR, Chipman JJ. Which patients do not require a
GH stimulation test for the diagnosis of adult GH deficiency?. J Clin Endocrinol Metab. Feb 2002;87(2):477-
85.
Workup for GH def
GH stimulation testInsulin-induced hypoglycemia is the most
powerful stimulus for GH secretion; however,
this test also carries the greatest potential for
harm*.
Alternate GH stimulants: Arginine*, levodopa,
Propranolol with glucagon, Exercise, Clonidine,
Epinephrine.
*Molitch ME, Clemmons DR, Malozowski S, Merriam GR, Vance ML,. Evaluation and treatment of adult growth hormone
deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. Jun 2011;96(6):1587-609
GH stimulation test
INTERPRETATION:
Peak stimulated growth hormone conc. <5.1ng/ml*
in response to GH stimulation test or
<11.1 ng/ml in response to combined Arg- GHRH
stimulation test with patients having BMI less
than 25*.
*Molitch ME, Clemmons DR, Malozowski S, Merriam GR, Vance ML,. Evaluation and treatment of adult growth hormone
deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. Jun 2011;96(6):1587-609
IGF-1 and IFGBP-3 measurement*
IGFBP-3 and IGF-1 serum levels represent a stable and integrated measurement of GH production and tissue effects
IGF-1 have superior diagnostic sensitivity and specificity compared with IGFBP 3.
The combination of IGF-1 and IGFBP-3 measurements is superior when compared to individual tests
Workup for GH def
*IAP spatiality series Endocrinology 2nd edition
Interpretation of results*
If IGF-1 and IGBP-3 level are normal then it shows
that GH level is also normal (no need for GH testing)
If IGF-1 and IGBP-3 level are low then it may be due
to GH def or GH resistance-----go for GH basal level
and after stimulation
If GH also low then GH def, if normal or high then GH
resistance ( Primary IGF-1 def)*IAP spatiality series Endocrinology 2nd edition
growth hormone therapy*
Currently approved as per FDA IN:
GHD
TURNERS SYNDROME
RENAL INSUFFIENCY
PRADER WILLE SYNDROME
NORMAL CHILDREN WITH HEIGHT <2.4 SD
SGA who have not reached 5th centile by 2yrs.
Shox (short stature homeobox gene)deficiency.
*IAP spatiality series Endocrinology 2nd edition
GH THERAPY*
DOSE: 0.1U/KG/DAY s.c. at night time
Follow up & watch for at least one year before
starting the treatment.
Earlier is always better & ideal is 3-4yrs
Never delay beyond 7-8yrs
Usually growth velocity is maximum in first year
of therapy.
*IAP spatiality series Endocrinology 2nd edition
Devices:
Freeze dried – commonest
Liquid prep- easy to administer
GH THERAPY
Automated pen type
G H THERAPY
Routes of administration:
S.c- currently using
Intranasal- under trials
Timing: 2-3 times/wk
Response to Rx:
Max response in 1st year with growth velocity >95th percentile
With each increasing year the growth rate tends to decline.
If falls <25th percentile: assess compliance before increasing dose.
CRITERIA FOR STOPPING Rx:*
Decision by patient that he/she is tall enough
Growth rate <1 inch/year
BA >14YRS in girls & 16yrs in boys.
*IAP spatiality series Endocrinology 2nd edition
FOLLOWUP:*
required as there is risk of :primary hypothyroidism /
adrenal insuffiency so periodic follow up needed.
SIDE EFFECTS:*
Pseudotumour cerebri, hyperglycemia, acute
pancreatitis, liver abnormalities, gynaecomastia,
*IAP spatiality series Endocrinology 2nd edition
Take Home Message
Take height properly along with the height of parents
Plot on Growth Charts and find out the target centile
Determine the growth velocity by follow up at least after 6
months
A systematic approach and simple tests like bone age
usually reduce the need & hence cost of further
investigations
For dynamic stimulation tests refer the child to specialist
centres
SHORT STATURE
Dysmorphic Normal
•Russle Silver
•Noonan’s
•Turner syndrome
•Downs syndrome
•Prader Willi
•Pseudo-
hypoparathyroidism
ProportionateDis-
Proportionate
•Constitutional
•Familial/genetic
•IUGR
•Ch Malnutrition
•Celiac Disease
•Chronic systemic
disease (CRF, CLD)
•GH Deficiency
•Hypogonadism
•Hypothyroidism
•Osteogenesis
imperfecta
•Achodroplasia
•Rickets
•Metabolic and
storage disorders
(short spine)
Level 1 ( essential investigations):
1.Complete hemogram with ESR
2.BONE AGE
3.Urinalysis ( Microscopy, pH, Osmolality)
4.Stool ( parasites, steatorrhea, occult blood)
5.Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, venous gas, fasting sugar,
albumin, transaminases)
Level 2 (investigations for short stature)
1.Serum thyroxin, TSH
2.Karyotype to rule out Turner syndrome in girls
Above is normal and bone age is delayed proceeds to level 2
• If above investigations are normal and height between -2 to -3→
observe height velocity for 6-12 months
• If height < -3 SD → proceeds to level 3 investigations