Short Stature

Definition
Height is >2.5 SD below the mean for age
Height is >2.5 SD below the mean for
that expected based on mid-parental. or:
Height velocity less than 3
rd
percentile for
age or less than 4 cm/year at any time
between 5y. and puberty.
PROCEDURES FOR ACCURATE MEASUREMENT
accurate scale.

Length two examiners
height For older children

Wrong measurements:
Using paper at the foot and head of a supine infant
using a simple wall growth chart with a book or
ruler.

compare with previous, repeat if inconsistent
Specialized charts

very low birthweight and prematurity
Down
Turner
Klinefelter
achondroplasia.

Z-Score
A Z-score is a measurement of deviation from the
norm.

Its units are standard deviations, so a Z-score of +2
means that the measurement falls two standard
deviations away from the norm.

Anything within 2 standard deviations of the norm
in most scales is fine.

z-scores are a good way to "eyeball" where a given
measurement falls.
Z-Score
68% of the population will fall between +1 and -1 standard
deviation of the average score.

95% will fall between +2 and -2 standard deviations of the
score.

So - if you have a z-score you can estimate your percentile
very roughly as follows:
-3z = 0.1% percentile
-2z = 2.5nd percentile
-1 z = 15th percentile
0 z = 50th percentile
+1z = 84th percentile
+2z = 98th percentile
+3z = 99.9 percentile
7/31/2014 10
Severity of Malnutrition and Stunting
GRADE OF MALNUTRITION HEIGHT FOR AGE

(STUNTING)
0, normal
>95
1, mild
9095
2, moderate
8589
3, severe
<85
Causes of linear growth
problems
congenital
constitutional
familial
Endocrine
Nutritional

In endocrine disorders
length or height declines first or at the
same time as weight;
weight for height is normal or elevated.

In nutritional insufficiency
weight declines before length
weight for height is low (unless there has
been chronic stunting).

Congenital
In congenital pathologic short stature:
infant is born small and
growth gradually tapers off throughout
infancy.
Causes include chromosomal
abnormalities (Turner syndrome, trisomy
21), perinatal infection (TORCH),
teratogens (phenytoin, alcohol), and
extreme prematurity.

constitutional growth delay
1. Slow linear growth during the first three years
2. Normal (but short) growth velocity during pre-
pubertal years
3. Delayed bone age and sexual maturation
4. Normal adult height (but may be below target)
Often family history of late bloomers
Bone age corresponds to height age




Familial
In familial short stature:
both the infant and the parents are small
growth runs parallel to and just below the
normal curves.
1. Similar growth pattern to constitutional delay.
2. Usually have normal birth weights since nutrition
and uterine environment determine birth weight
3. Normal onset of puberty
4. Bone age c/w chronologic age
5. Final height is short, but appropriate for parental
height
Height-for-age curves of the four general causes of proportional
short stature: postnatal onset pathologic short stature, constitutional
growth delay, familial short stature, and prenatal onset short stature.
OTHER INDICES OF GROWTH
Body proportions follow a predictable sequence of
changes with development .
The head and trunk are relatively large at birth, with
progressive lengthening of the limbs throughout
development, particularly during puberty.
The lower body segment is defined as the length
from the symphysis pubis to the floor, and the upper
body segment is the height minus the lower body
segment.
The ratio of upper body segment divided by lower
body segment (U/L ratio) equals approximately 1.7 at
birth, 1.3 at 3 yr of age, and 1.0 after 7 yr of age.
Higher U/L ratios are characteristic of short-limb
dwarfism or bone disorders, such as rickets.
SKELETAL MATURATION.

In familial short stature, the bone age is
normal (comparable to chronological
age).
In constitutional delay, endocrinologic
short stature, and undernutrition, the
bone age is low and comparable to the
height age.
Skeletal maturation is linked more
closely to sexual maturity rating than to
chronological age.
Causes of Short Stature
Genetic IS NICE
I= Idiopathic: constitutional
= IUGR
S=Skeletal: dysplasia, osteogenesis imperfecta
=Spinal defects: scoliosis, kyphosis.
N=Nutritional: including malabsorption
I = Iatrogenic: steroids, radiation
C = Chronic disease: CHD, CRF, CF, IBD
= Chromosomal: Turner, Down, Seckel syndrome
E =Endocrine: GH def., CAH, hypopituitarism, IDDM
pseudohypoparathyroidism.
G = Genetic.
Short stature
observation and examination
1. INTRODUCE SELF
2. GENERAL INSPECTION
Position patient: standing,
fully undressed
Diagnostic facies
Disproportionate stature .
Tanner staging
Nutritional status
Skeletal anomalies
Colour
Tachypnoea
Skin.
Short stature
observation and examination
3. MEASUREMENTS AND
MANOEUVRES
See separate diagram
4. UPPER LIMBS Structure fingertips
Nails
Palms
Pulse
Joints
Blood pressure
. 5. HEAD AND NECK Head
Hair
Eyes (full examination) Nose
Mouth and chin
Ears
Hairtine
Neck (thyroid)
6. CHEST Tanner staging Chest
deformity Precordium Lung fields
7. ABDOMEN
Full abdominal examination
8. GENITALIA
Tanner staging
Anomalies

9. GAIT, BACK AND LOWER LIMBS
Inspect lower limbs
Gait (fun examination)
Back
Lower limbs neurologically

10. OTHER
Urinalysis Stool analysis
History
Maternal pregnancy
Birth history
Growth history
Family history
Dietary history


Differential
Variants of Normal
Familial short stature
Constitutional delay
idiopathic
Pathologic/Growth Failure
Hormonal
Genetic
Systemic
Psychologic


Familial Short Stature
NL history and PE
Birth weight and
length below 3
rd

percentile for GA
Family history of short
stature
Growth curve that
parallels 3
rd
percentile
nL onset of puberty
Bone age appropriate
for chronological age
Familial Short Stature
IUGR
20% of short people had IUGR
Small for gestational age at birth
Slow growth from early infancy
Normal bone age
Normal sexual development
Normal PE and lab tests
Normal GH levels
Lower intellect
Normal growth pattern in family
Endocrine Disorders
Very uncommon causes
GH deficiency, hypothyroidism,
panhypopituitarism, glucocorticoid excess
Usually short, fat child
Start growth hormone labs
If nL, do other tests to rule out steroid
excess such as Cushings
May have delayed bone age

Isolated GH deficiency
hard to differential from constitutional short
stature
Congenital or acquired
2 peaks for diagnosis
IGF-1 and IGFBP-3 are low
GH provocative testing for diagnosis
Do MRI
Chronic illnesses

Renal disease
Nephritis, renal tubular acidosis
GI disease
Celiac disease, Crohns, Cystic Fibrosis
Cardiac disease
Pulmonary disease
HIV
Short stature is maltifactorial
Decreased or normal wt/ht ratio
Delayed bone age
Congenital Syndromes
Turners
Most common congenital cause of short stature, XO karyotype
Short stature 95%, web neck, low hairline, delayed puberty
Noonans
Similar features to Turners, nL karyotype
Short stature 80%
Autosomal dominant genetic disorder
Males, females, 1/2500 births
Prader-Willi
1/16000
Obese, feeding problems
Short children, lack of pubertal growth spurt
Downs
Special attention to Turners, can present as short stature only
Order karyotype and refer to geneticist


Turner syndrome
Most common abnormality in early
abortion
Female, short stature, primary
amenorrhea, sterility, spares hair and
underdeveloped breast
Neonatal: wide spaced nipple,
lymphedema , shield chest,
Coarctation of the aorta
Continue turner syndrome
Normal IQ scale with difficulty in spatial
orientation such as map
Present with short stature or delay sex
maturation
Hormonal therapy

continue
Mosaisim (15%), remove gonads
Recurrent risk is 1-2%



Short stature


Congenital lymphedema


Horseshoe kidney


Patella dislocation


Increased carrying angle of elbow


Madelung deformity (chondrodysplasia of distal radial
epiphysis)


Congenital hip dislocation


Scoliosis


Widespread nipples


Shield chest


Redundant nuchal skin (in utero cystic hygroma)


Low posterior hairline


Coarctation of aorta


Bicuspid aortic valve


Cardiac conduction abnormalities


Hypoplastic left heart syndrome?


Gonadal dysgenesis (infertility, primary amenorrhea)


Gonadoblastoma (if Y chromosome material present)


Learning disabilities (nonverbal perceptual motor and
visuospatial skills) [in 70%]


Developmental delay (in 10%)


Hypothyroidism (acquired in 1530%)


Type 2 diabetes mellitus (insulin resistance)


Strabismus


Cataract


Red-green colorblindness (as in males)


Recurrent otitis media


Sensorineural hearing loss


Inflammatory bowel disease


Celiac disease?
Turner Syndrome
Turners Growth Curve
Noonan syndrom
AD, fresh mutation
Pulmonary stenosis,
short stature,
microceph,
mental retardation

Growth parameters
Size at birth is usually within range.
Short stature in 80% of patients




Short stature


Failure to thrive


Epicanthal folds


Ptosis


Hypertelorism


Low nasal bridge


Downward slanting palpebral fissures


Myopia


Nystagmus


Low-set auricles


Dental malocclusion


Low posterior hairline


Short webbed neck


Shield chest


Pectus excavatum or carinatum


Scoliosis


Cubitus valgus


Pulmonary valve stenosis


Hypertrophic cardiomyopathy


Atrial septal defect (ASD)


Tetralogy of Fallot


Cryptorchidism


Small penis


Bleeding disorders, including thrombocytopenia
Facial features
Triangular-shaped face
Hypertelorism
Down-slanting eyes
Ptosis
Strabismus (48%)
Amblyopia (33%)
Refractive errors (61%)
Low-set ears with thickened helices
High nasal bridge
Short webbed neck
Pectus carinatum or excavatum
Scoliosis

Prader-willi syndrome
(A fat red faced boy in state of
somnolency) Charles Diickens
Early hypotonia
Obesity
Short stature as adult
Almond shaped blue eyes
Mental retardation (mild to
moderate)
Narrow hands
Clinical features and signs
PWS affects approximately 1 in 10,000 to
1 in 25,000 newborns
In utero:
Reduced fetal movement
Frequent abnormal fetal position
Occasional polyhydramnios
At birth

Often breech or C/S
Lethargy
Hypotonia
Feeding difficulties (due to poor muscle
tone affecting sucking reflex)
Difficulties establishing respiration
Hypogonadism

Infancy

Failure to thrive (continued feeding
difficulties)
Delayed milestones/intellectual delay
Excessive sleeping
Strabismus
Scoliosis (often not detected at birth)
Childhood

Speech delay
Poor physical coordination
Hyperphagia (over-eating) from age 2 8 years.
Note change from feeding difficulties in infancy
Excessive weight gain
Sleep disorders
Scoliosis

Adolescence &
Adulthood
Delayed puberty
Short stature
Obesity
Infertility (males and females)
Hypogonadism
Sparse pubic hair
Hypotonia
Learning disabilities/borderline intellectual
functioning
Prone to diabetes mellitus
Neuro-cognitive
5%: IQ above 85 (average to low average
intelligence)
27%: IQ 70 85 (borderline intellectual
functioning)
39%: IQ 50 70 (mild intellectual disability)
27%: IQ 35 50 (moderate intellectual disability)
1%: IQ 20 35 (severe intellectual disability)
<1%: IQ <20 (profound intellectual disability)1

Treatment

Prader-Willi syndrome has no cure,
During infancy, manage feeding problems.
Speech and occupational therapy.
During the school years, children benefit from a highly
structured learning environment.
Treat severe obesity.
Prescription of daily recombinant growth hormone.
GH supports linear growth and increased muscle mass,
and may lessen food preoccupation and weight gain
Because of severe obesity, obstructive sleep apnea is a
common sequela, and a positive airway pressure
machine is often needed.
Angelman syndrome
Sever mental retardation
Inappropriate laughter
Decrease pigmentation of choroid
or iris (pale blue eyes)
Ataxia and jerky eye movement
Sever speech problem
Deletion of b15q11q13, maternal
in origin
Paternal uniparental disomy
Malnourisment
Starvation, nutritional deficiency, DM type
1, anorexia, malabsorption
Decreased wt/ht ratio
Decreased linear growth and sexual
development, preceded by decreased wt
Adequate nutrition catch up growth

Malnourishment Curve
Psychosocial
Truly neglected children, psychosocial
dwarfism
GH deficiency-like picture
Abnormal response to provocative testing
normal growth after removed from
environment
Idiopathic
normal history, normal physical and labs
Controversy on treatment
GROWTH HORMONE
DEFICIENCY
Etiology and Epidemiology
Classic: 1 in 4000 to 10,000 children.

hypothalamic disease:
inadequate GRF.

anatomic defects of the pituitary gland .
Causes of Growth hormone deficiency
CNS malformations (midline defects)
Hydrocephalus
CNS injuries (birth, forceps)
Meningitis, brain edema
Congenital infections
Hypothalamic or hypophyseal tumors
Cranial radiation
Congenital, genetic

Clinical Manifestations
In congenital GH deficiency:
growth rate slows after birth, noticed
after age 2 to 3 years.

elevated weight-to-height ratio and
appear chubby and short.

Careful measurements in the first year
of life may suggest the diagnosis.
high-pitched voice.

normal intellectual growth
Male neonates may have a microphallus
fasting hypoglycemia.

GHR Deficiency/Receptor
(Laron Syndrome)
High GH, low IGF-1
Short stature
Hypoglycemia
Poor muscle development
Obesity
Osteoporosis
Can be treated with IGF-1 to correct
growth, and certain metabolic changes

Diagnosis
GH should be tested for children who are:

1. short (<5th percentile and usually >3.5 SDs
below the mean),
2. growing poorly (<5th percentile growth
rate for age), or
3. whose height below the target height
when corrected for family height .
Testing Growth hormone
secretion
Physiological tests:
One random sample
Physical activity
Continuous overnight sampling
Continuous 24 hours sampling

Stimulation tests (always two tests):
Insulin iv (hypoglycemia)
Arginine iv
Glucagone iv or im
Clonidine (oral)
GHRH






1. GH (useless as a random
determination except in GH resistance
or in pituitary gigantism
2. Arginine (a weak stimulus)
3. l-Dopa (Useful clinically)
4. Insulin-induced hypoglycemia
(a dangerous but accurate test(
5. Clonidine (useful clinically)
6. IGF1 (affected by malnutrition and
GH deficiency)
Indications for Growth hormone treatment
Main indication:
Growth Hormone Deficiency

Other indications:
Turner Syndrome
Renal failure
Prader-Willi Syndrome
Small for gestagional age without catch-up
growth ?
The recommended dose of hGH is
0.180.3 mg/kg/wk SC in 6 or 7 divided
doses during childhood.

Higher doses have been used during
puberty.

Maximal response to GH occurs in the
1st year of treatment.

It should be continued until near final
height is achieved.

Criteria for stopping treatment;
- becomes tall enough
- bone age >14 yr in girls and >16 yr in
boys.

COMPLICATIONS AND ADVERSE EFFECTS
OF hGH TREATMENT
1. Leukemia.
2. Pseudotumor cerebri,
3. Slipped capital femoral epiphysis, Gynecomastia,
4. Worsening of scoliosis.
5. Increase in total body water
6. It may increase the risk of type 2 diabetes.
7. In the extracted pituitary GH treatment era,
patients were at risk for Creutzfeldt-Jakob (CK)
disease
8. Hypothyroidism
adrenal insufficiency.


Growth hormone therapy
Available only as injection
Subcutaneous
Administer after 8.00 pm
3 to 7 times a week
0.15 to 0.3 mg/kg/week
Effect is dose-dependent
Growth hormone therapy
Effect reduces with time; esp after 3 years
?Formation of antibodies
?Hypothyroidism
Side effects more common in adults
Growth hormone therapy
Response better if
started earlier
Average increment =
10 cm/year
Better response in
classic GHD
Higher dose needed
in Turner syndrome
1. Definition of short stature:
A. Height is >2.5 SD below the mean for
age
B. Height is >2.5 SD below the mean for
that expected based on mid-parental
C. Height velocity less than 3rd
percentile for age
D. All are correct
E. A+B only are correct.
1. Definition of short stature:
A. Height is >2.5 SD below the mean for
age
B. Height is >2.5 SD below the mean for
that expected based on mid-parental
C. Height velocity less than 3rd
percentile for age
D. All are correct
E. A+B only are correct.
2. All are correct for Z-Score
Except:
A. 68% of the population will fall between
+1 and -1 standard deviation of the
average score.
B. 95% will fall between +2 and -2
standard deviations of the score.
C. -3z = 0.1% percentile
D. -2z = 5th percentile
E. +1z = 84th percentile
2. All are correct for Z-Score
Except:
A. 68% of the population will fall between
+1 and -1 standard deviation of the
average score.
B. 95% will fall between +2 and -2
standard deviations of the score.
C. -3z = 0.1% percentile
D. -2z = 5th percentile
E. +1z = 84th percentile
3. The following is incorrect for
causes of short stature
A. In endocrine causes weight for height
is normal or elevated
B. In nutritional insufficiency weight for
height is low
C. In constitutional there is normal linear
growth during the first 3 years.
D. In congenital growth gradually tapers
off throughout infancy.
E. all of the above are incorrect.
3. The following is incorrect for
causes of short stature
A. In endocrine causes weight for height
is normal or elevated
B. In nutritional insufficiency weight for
height is low
C. In constitutional there is normal linear
growth during the first 3 years.
D. In congenital growth gradually tapers
off throughout infancy.
E. all of the above are incorrect.

4. Delayed sexual maturation is a
feature ot the following cause of
short stature:
A. constitutional
B. endocrinal
C. congenital
D. familial
E. none of the above
4. Delayed sexual maturation is a
feature ot the following cause of
short stature:
A. constitutional
B. endocrinal
C. congenital
D. familial
E. none of the above
5. The following is incorrect for
familial short stature:
A. similar growth pattern to
constitutional short stature
B. birth weight is usually normal..
C. normal onset of puberty.
D. delayed bone age.
E. short final height.
5. The following is incorrect for
familial short stature:
A. similar growth pattern to
constitutional short stature
B. birth weight is usually normal..
C. normal onset of puberty.
D. delayed bone age.
E. short final height.
6. Bone age is delayed in the
following cause/s of short
stature:
A. endocrinal
B. nutritional
C. constitutional
D. all of the above
E. A+C only

6. Bone age is delayed in the
following cause/s of short
stature:
A. endocrinal
B. nutritional
C. constitutional
D. all of the above
E. A+C only

7. Limbs and trunk are short in the
following cause of short stature:
A. achondroplasia.
B. Pseudohypoparathyroidism
C. Mucopolysaccharidosis.
D. All of the above
E. None of the above
7. Limbs and trunk are short in the
following cause of short stature:
A. achondroplasia.
B. Pseudohypoparathyroidism
C. Mucopolysaccharidosis.
D. All of the above
E. None of the above
Stunting with obesity is found is
found in all of the following
disorders except:
A. Lourance-Moon-Biedle syndrome
B. Prader-Willi syndrome
C. Hypothyroidism
D. Hypochondroplasia
E. Growth hormone deficiency.
Stunting with obesity is found is
found in all of the following
disorders except:
A. Lourance-Moon-Biedle syndrome
B. Prader-Willi syndrome
C. Hypothyroidism
D. Hypochondroplasia
E. Growth hormone deficiency.