Download short stature

SHORT STATURE
Prof.Dr. Oya Ercan
Failure of physical growth
an important sign of disease.
 Differential diagnosis of the
short child is wide.
Treatment effective only before
the epiphyses fuse.
Short child: Any child whose height
falls below the 3rd centile for his/her
community.
The main reasons for differences in the
mean heights of children in different
populations are environmental
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.
Expected or Target Height: Determined
from the parents’ height centiles.
 +12,6 cm to the mother’s height on a boy’s chart.
 -12,6 cm from the father’s height on a girl’s chart.
Almost all (95%) normal children have a
final height within 9 cm of the mid-parental
centile.
Predicted height may be
calculated from the present height,
age and bone age.
If the predicted height falls more
than 10cm below the expected
height (mid-parental centile)
growth is abnormal for the family.
1. The heights of the parents and the age at
which they reached puberty.
2. The child’s weight and gestational age at
birth and pattern of growth since then.
3. The appetite, energy and well-being of the
child.
4. Any specific symptoms.
5. Social history (structure of the family, the
quality of the relationships within it and the
mother’s health and ability to cope)
General physical examination
should include:
 Observation of the child’s
proportions
 Standard of nutrition
 The presence of any minor
abnormality or abnormal facies
 Routine examination of the urine
1. Those who require further investigation
immediately:
Height well below the 3rd centile,evidence of
chronic ill health or, a growth velocity below the
25th centile over one year.
2. Those with genetic short stature:
Who are well, with heights near the 3rd centile,
within the target or expected centile range,
satisfactory growth velocity.
Make sure that the parent’s short statue is not the
result of a pathology and that the child does not
have a hereditary disorder affecting growth.
3. Those who are suffering as a result of social
problems or deprivation.
Growth velocity is a more useful
observation then actual height.
Because of seasonal variations in
growth rate velocity must be
assessed over a whole year.
FURTHER INVESTIGATION
Measurement of sitting as well as
of standing height, assesment of
fat and muscle development from
mid-upper arm circumference and
triceps skinfold thickness
measurements, examination of the
optic fundi and visual fields.
1. Radiographs of the skull and of the hand
and wrist for bone age.
2. Chromosome analysis: Turner’s ?
3. Simple renal function tests: Urine culture,
blood urea and creatinine.
4. Test of thyroid function, particularly thyroid
stimulating hormone, free thyroxine.
5. Hb and blood folate estimations,
malabsorption ?
Familial short stature – organic disorders
identified
Various grades of GH insufficiency ?
Genetic delay ?
When GH insufficiency is considered possible:
Serum IGF-I (SM-C)
GH response to exercise 10 min.
A sleep GH level (in very young
children) 30 min. after onset of sws
Provocative testing insulin, arginine, LDopa clonidine
 24 hr or overnight GH profile 20 min.
CAUSES OF SHORT STATURE
Bone Disease : Predominantly affect limb
bones or spine → disproportionate short
stature.
In some mild forms of bone disease
(hypochondroplasia, epiphyseal dysplasias)
may not be apparent.
SKELETAL DYSPLASIAS OF UNKNOWN
PATHOGENESIS
1. Dysostoses: Malformations of individual
bones, singly or in combination.
2. Osteochondrodysplasias: Abnormalities
of cartilage and/or bone growth and
development :They affect stature
especially defects of growth of tubular
bones or spine or both (a)
Other osteochondrodysplasias
Disorganized development of cartilage and
fibrous component of the skeleton e.g.
fibrous dysplasia and enchondromatoses
Abnormalities of density or of cortical
diaphyseal structure and of metaphyseal
modelling (e.g. osteogenesis imperfecta,
osteopetrosis)
Osteochondrodysplasias(a)
Manifested at birth → achondroplasia
Manifested in later life → hypochondroplasia
Achondroplasia: Rhizomelic short limbs,
autosomal dominant (80% new mutations)
most common genetic skeletal dysplasia.
Bone lengthening (chondrodiatasis)
DISEASES OF BONE WITH KNOWN
PATHOGENESIS
1. Chromosomal aberrations
2. Primary metabolic abnormalities
 Calcium and phosphorus metabolism
 Mucopolysaccharidoses
 Mucolipidosis – lipidosis
3. Bone abnormalities secondary to
disturbance of extraskeletal system.
Syndromes
Any short child who has other
abnormalities such as old facies, mental
retardation or low birth weight.
Most chromosomal abnormalities lead to
short stature.
 Trisomies 21, 18, 13
 Partial deletion of a chromosome cri-duchat, 4p⁻, 13q⁻, 18p⁻, 18q⁻, 21q⁻
syndromes
 Extra fragment of a chromosome e.g.
the cat-eye syndrome
Some syndromes with severe short
stature:
Aarskog’s syndrome, Bloom’s syndrome,
Cockayne’s syndrome, Russell – Silver
syndrome, Seckel’s syndrome ...etc. → no
consistent chromosomal abnormalities.
Turner’s Syndrome
Characteristically is associated with 45X
chromosomes.
Neonatal lymphoedema
Low posterior hairline
Webbed neck
Their pattern of growth shows a combination of
poor intrauterine growth, gradual decline in
velocity during childhood and an absence of
puberty growth spurt.
Diseases of a major organ or
metabolism
Asthma
Renal disease
Congenital heart disease
Diabetes mellitus
Chronic anemia
Mental retardation
Nutritional Disorders
 Kwashiorkor
Marasmus
Inadaquate intake: Renal disease,
infections, pyschological disturbances
such as anorexia nervosa and depressin
Chronic intestinal disease
• Cystic fibrosis
• Celiac disease
Growth retardation in undernutrition is a
means of conserving nutrients for
essential functions and keeping
requirements to a minimum.
The finding of gross or multiple endocrine
abnormalities in an undernourished patient
must raise the possibility of organic
hypothalamic disease with secondary
malnutrition.
Low birthweight
AGA → usually normal stature (premature)
normal stature
SGA = Light–for-dates
short stature
Short stature:
1- Chromosomal disorders
2- Children who have been damaged in utero by some
recognised environmental insult e.g. Rubella, alcohol,
anticonvulsants etc. (Impaired growth potential at cellular
level)
3- Placental dysfunction
4- Syndromes of unknown etiology of which low birth weight
is a feature (multifactorial?)
Endocrine Diseases
1)Thyroid Deficiency:
GH response to stimulation tests may be
clusterd →Hypothyroidism should be
excluded before GH tests are done.
2)Corticosteroid Excess:
- Cushing’s syndrome
- High-dose steroids used over long periods
of time (asthma, rhematoid arthritis)
- (Unhealthy skin) steroid creams
- Prolonged treatment with ACTH
3)Growth hormone insufficiency
 Complete deficiency: deletion of GH gene
(very rare)
 GH insufficiency (usually isolated or with other
pituitary hormone deficiencies)
 Multiple deficiencies: Craniopharyngioma ?
 Neurosecretory dysfunction (physiological
deficiency)
 Inability to generate IGF (Laron dwarfism)
 Defect in IGF receptors (African Pygmy)
Social Disorders
Emotional deprivation
GH insufficiency : 1/4000
NSD : 1/4000 ?
Thyroid deficiency : 1/3000 – 5000
Turner’s syndrome : 1/3000 ♀
Celiac disease : 1/2000
2-3 /1000 children have short stature
caused by conditions for which specific
treatment available and appropriate.
Genetic
Two groups of genes acquired from the
parents affect the height of a child.
1- The group that determines the child’s
final height
2- The group that determines the rate of
maturation, the age of puberty and the age
of cessation of growth
1. Familial short stature (genetic shortness)
2. Genetic delayed maturation
3. 1+2 (small / delay)
some of them NSD or NVSS