Short Stature in Pediatrics

Lecturer of Pediatrics
Al Azhar University
SHORT STATURE DR. HUSSEIN ISHAK

Length
Height
Standard deviation *
Velocity rate*
Dysplasia
Normal variant
Dwarfism (obs,)
Chronological Age *
Bone Age *
Height Age *
TERMS
SHORT STATURE Dr. Hussein Ishak

Single most important Growth
assessment screening tool.
VELOCITY RATE

Normal height increase
Growth of height/yearAge
25 cm, 23-27cm<1 year
10 cm, 10-14 cm1 to 2 years
8 cm2 to 3 years
7 cm3 to 4 years
5-6 cm4 to 10 years
5.5 cm10 year old girl
4.9 cm12 year old boy
8-12 cm10 year old girl
10-14 cm12 year old boy
VELOCITY RATE

Velocity curves for
height.
VELOCITY RATE

VELOCITY RATE

Abnormal Growth
Growth Rate per Year
Age 3 years to Puberty: < 4.5 cm
Age 5 years to Puberty: < 5 cm
Minimum time interval between assessments
Age <3 years: minimum 4 month interval
Age >3 years: minimum 6 month interval
VELOCITY RATE

The relationship of centiles to SD in a normally distributed fashion.
Height velocity and weight velocity are normally distributed in the population.
The mean corresponds to the 50th centile.
+2 SD and −2 SD correspond to the 3rd and to the 97th centile, respectively.

The lower segment (the symphysis pubis to the floor).
The upper segment (the total height - the lower segment).
Arm span is the distance between the tips of middle fingers when the arms
are fully extended
TERMS
Normal US/ LS ratio
 at birth = 1.7
 at 3 years =1.3
 at 7 years =1
The normal arm span minus height value
 (0- 7 yrs) : –3.
 8-12 years : zero.
 14 years : + 1cm for girls
+ 4 cm for boys.

Length/height less than 2 (SD) below the mean for age and
sex.
Or – Any child whose height is below the 3rd percentile,
Or – Any child whose height increases is  5 cm/year, after
the age of 2yr.
DEFINITION

1- Genetic (familial)
2- Constitutional
1- Nutritional
2- Skeletal
3- Chronic disorder
4- Chronic hypoxemia
5- Chromosomal
6- Psychosomatic deprivation
7- Small at birth (Primordial IUGR)
8- Endocrine
1- Non pathological
(80%)
2-Pathological
(20%)
ETIOLOGY

A - Pathological:
1- Nutritional
2- Skeletal
- Short limb e.g. achondroplasia
- Deformed limb: rickets, osteogenesis imperfecta
3 – Chronic metabolic or systemic disorder
- Liver: cirrhosis
- Kidney: chronic renal failure, renal tubular disorders
- Chest: severe bronchial asthma, bronchiectasis,TB
- GIT: malabsorption, celiac disease, IBD.
ETIOLOGY

A - Pathological:
4- Chronic hypoxemia
- Cyanotic congenital heart disease (???)
- Chronic anemia (e.g. thalassemia)
5- Endocrine
- Growth hormone deficiency (types ??)
- Hypothyroidism
6- Chromosomal
- Down and Turner syndromes (MOI ???)
7- Primordial (Intrauterine growth retardation)
8- Psychosomatic emotional deprivation
ETIOLOGY

Proportionate
A- Normal Variations
 familial
 constitutional
B- Pathologica
IUGR, IEM,
Chromosomal
Endocrine diseases,
Chronic systemic illness,
Psychosocial.
Disproportionate:
A -Skeletal dysplasias:
short limbs:
achondroplasia,
osteogenesis imperfecta
Short trunk: MPS.
b- Rickets
CLASSIFICATION OF SHORT STATURE

Sex M = F M > F
Length at Birth Normal
Normal (starts falling <5th centile
in 1st 3 yrs of life)
Family History Of short stature Of delayed puberty
Parents Stature Short (one or both) Average
Height Velocity Normal Normal
Puberty Normal Delayed
Bone Age
Chronological Age
BA = CA > Height Age CA > BA = Height Age
Final Height
Short, but normal for target
height
Normal
Treatment May need No treatment

Height-for-age curves of the 4 general causes of proportional SS:
postnatal onset pathologic, constitutional growth delay, familial, and
prenatal onset.

Level 1 (Essential)
1- CBC and ESR
2- Bone age: X-ray of the wrist to assess bone age.
Delayed in:
Constitutional short stature Malnutrition
Hypothyroidism Hypopituitarism
Advanced in: Congenital adrenal hyperplasia
3- Urinalysis (Microscopy, pH, Osmolality)
4- Stool analysis (parasites, steatorrhea, occult blood)
5- Blood (RFT, LFT, ca., phosphate, alk. phosphatase, ABG, fasting sugar)
INVESTIGATIONS

Level 2:
1. Serum thyroxine, TSH
2. Karyotype to rule out Turner syndrome in girls
INVESTIGATIONS

Level 3:
1. Celiac serology (anti- endomysial or anti- tissue transglutaminase
antibodies)
2. Duodenal biopsy.
3. GH stimulation test (with Clonidine or insulin) and serum insulin like
growth factor (GF-1 levels)
4. Sweat chloride test: to exclude cystic fibrosis.
5. Prolactin:
 Elevated in hypothalamic dysfunction or destruction.
 Suppressed in pituitary disease.
INVESTIGATIONS

1. Counseling of parents (for physiological causes)
2. Dietary advice (Under nutrition, Celiac disease, Renal Tubular Acidosis)
3. Limb lengthening procedures (skeletal dysplasia)
4. Levothyroxine (In Hypothyroidism)
5. Growth hormone therapy. *
6. Monitoring with regular & accurate recording of height is mandatory for
a good outcome in any form of therapy

1. Documented growth-hormone deficiency
2. Idiopathic short stature
3. Turner syndrome
4. Noonan syndrome
5. Prader-Willi syndrome.
6. End-stage renal disease
7. IUGR without catch-up growth by 2 years of age.
8. SHOX gene abnormality

LECTURE IN PHOTOS

Short stature (108 cm), generalized myxedema, sleepy expression, protuberant abdomen,
and coarse hair, 12 yr old boy. Body proportions are immature for his age (1.25 : 1). B,
Same boy 4 mo after treatment. His height increased by 4 cm; note the marked change in
body habitus owing to loss of generalized myxedema, improved muscle tone, and bright
facial expression.
LECTURE IN PHOTOS

15 yr girl
Failure of sexual maturation,
Short stature,
Cubitus valgus, and a goiter.
There is no webbing of the
neck.
LECTURE IN PHOTOS

MUCOPOLYSACCHARIDOSES
MPS-I: Hurler disease, 3 yr old;
MPS-II: Hunter disease, 12 yr;
MPS-III: Sanfilippo disease,
LECTURE IN PHOTOS

Achondroplasia
is the most common condition characterized by
disproportionate short stature.
MCQ

Indications of Growth hormone therapy ???
Causes of Disproportionate SS ?
Define SS and mention 4 causes of pathological SS?
Define SS and mention 3 syndromes ?
LECTURE IN QUESTIONS

‫للم‬ ‫تقييكم‬ ‫تقبل‬ ‫يسعدنا‬‫حاضرة‬
‫واستفساراتكم‬ ‫واقتراحاتكم‬:
01022821192
THANK YOU

Short Stature in Pediatrics

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