Approach to a child with short stature AG

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 CAUSING
PSYCHOLOGICAL 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
Height(in)
Height(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 harmone
Growth Hormone
FSH
LH
GH
Thyroid
Birth 1 year 2 years 4years 8years Puberty Adult

Endocrinology of Postnatal Growth
Deficiency 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

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

Assessment of a child with short stature
For older children-
Harpenden Stadiometer

Height measurements
Without footwear
Heels & back touching
the wall
Looking straight ahead

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

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.*

At least 3 measurements with preferably 6 months
interval in between is necessary to comment on
growth pattern.*
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

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

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.*

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

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

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

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*

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*

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

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*

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 IGF1
Metabolic effects
IGF receptors
Growth Hormone
GH receptors
GH receptors Liver
Synthesis of IGF1
Proliferation of Cells
Cellular growth
Linear 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 test
Insulin-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

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)

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.

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.

Devices:
Freeze dried – commonest
Liquid prep- easy to administer
GH THERAPY

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.

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,

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
Proportionate
Dis-
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

Approach to a child with short stature AG

Approach to a child with short stature AG

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