Short stature can be defined as height below the 3rd percentile for age and gender. It can be caused by pathological factors like malnutrition, illness, or endocrine disorders, or it can be a normal variant related to genetics or prematurity. Evaluation of short stature involves assessing family history, physical exam, growth chart, bone age, and lab tests to identify the underlying cause and determine if treatment is needed. Growth hormone treatment may be used for conditions like growth hormone deficiency.

1. SHORT STATURE
H u s s e i n A l i A h m e d
A n w a r A b d E l - K a r e e m
M o h a m m e d R a i d L a z i m

2. DEFINITION
• Short stature is defined as subnormal height relative to
other children of the same gender and age, taking family
heights into consideration.
• The Centers for Disease Control and Prevention growth
charts use the 3rd percentile of the growth curve as the
demarcation of the lower limit.

3. CAUSES
Pathological cause
1. Nutritional/long-term illness.
2. Psychosocial deprivation.
3. Endocrine causes.
4. Chromosomal
disorder/syndromes.
Normal variant
1. Familial.
2. Small for gestational age and
extreme prematurity
3. Constitutional delay in growth and
puberty.

4. NORMAL VARIANT
1. Familial
Most short children have short parents and fall within the centile target range
allowing for mid-parental height.
Care needs to be taken, though, that both the child and a parent do not have an
inherited growth disorder, such as a skeletal dysplasia.

5. • A corrected mid-parental (or genetic target) height target helps determine whether the
child is growing well for the family or not.
• For males, mid-parental height is calculated as follows:
(Paternal height + Maternal heigh)/2 + [2.5(in inches) or 6.5 (in cm)]
• For females , mid-parental height is calculated as follows:
(Paternal height + Maternal heigh)/2 – [2.5(in inches) or 6.5 (in cm)]
This estimate is given by ±10 cm in a boy and ± 8.5 cm in a girl
WHAT IS THE MID-PARENTAL HEIGHT TARGET ??

6. 2. Small for gestational age and
extreme prematurity
• About 10% of children born small for
gestational age or who were extremely
premature remain short.
• GH treatment may be indicated if there is
insufficient catch-up growth by 4 years of
age.

8. 3. Constitutional delay in growth and puberty
Constitutional delay in growth and puberty is a variation of normal growth, which
presents with short stature in teenage years because of a delay in the onset of
puberty.
Growth during childhood is usually within the lower limits of normal, bone age is
somewhat delayed, and onset of secondary sexual development is delayed but final
height is normal.
There is usually a family history of delayed growth and puberty but normal height as
adults

10. PATHOLOGICAL
1. Nutritional/long-term illness
• This is a relatively common cause of abnormal growth these children
usually short and underweight.
• Inadequate nutrition may be due to insufficient food, restricted diets or
poor appetite associated with a long-term illness, or from the
nutritional requirement from a raised metabolic rate.

11. 2. Psychosocial deprivation
Children subjected to physical and emotional deprivation may be
and underweight and show delayed puberty.
This condition may be extremely difficult to identify, but affected
children show catch-up growth if placed in a nurturing environment.

13. 3. Endocrine
They are uncommon causes of short stature.
They are associated with children being relatively overweight, i.e. their
weight on a higher centile than their height.
A. Growth hormone deficiency
This may be isolated or secondary to wider pituitary dysfunction

14. B. Hypothyroidism
• This is usually caused by autoimmune thyroiditis during childhood, It may go
undiagnosed for many years and lead to short stature but when treated, catch-up
growth rapidly occurs.
C. Corticosteroid excess, Cushing syndrome
• This may be iatrogenic due to corticosteroid therapy or unusually due to pituitary or
adrenal pathology.
• Growth failure may be very severe, and is accompanied by excess weight gain,
although normalization of body shape and height occurs on withdrawal of
corticosteroid therapy or treatment of the underlying steroid excess.

16. 4. Chromosomal disorder/syndromes
Down syndrome Turner syndromeNoonan syndrome Russelle silver syndrome

18. APPROACH OF
SHORT STATURE

19. HISTORY
• Family history
• Birth history
• Developmental history
• Diet and nutrition
• Medical history
• Medication history
• Social history

21. PHYSICAL EXAMINATION
• General examination
• General systemic examination including lungs, heart, abdomen, neurologic systems
• Head and neck
• Dysmorphic features
• Hands
• Chest
• Genitourinary accurate Tanner staging

23. FAMILIAL SHORT STATURE
• In infancy the height is parallel to the 3rd percentile until adulthood
• (bone age and growth are normal and no treatment require)

25. CONSTITUTIONAL SHORT STATURE
• Normal in 50th but goes down parallel to the 3rd percentile then at any time it will go
up similar to his/her peers

27. PATHOLOGICAL SHORT STATURE
• Normal in 50th percentile but at any time will go down

29. GROWTH CHART

30. Investigation Significance
X-ray of the left hand
and wrist for bone age
Some delay in
constitutional delay of
growth and puberty.
Marked delay for
hypothyroidism or
growth hormone
deficiency
Full blood count Anaemia in coeliac or
Crohn’s disease
Creatinine and
electrolytes
Creatinine raised in
chronic kidney disease
Calcium, phosphate,
alkaline phosphatase
Renal and bone
disorders
Thyroid-stimulating
hormone
Raised in primary
hypothyroidism
Karyotype Turner syndrome
shows 45,XO, other
chromosomal disorders

31. Anti-endomysial (EMA) and anti-tissue
transglutaminase (anti-TTGa)
immunoglobulin A antibodies
Usually present in coeliac disease
C-reactive protein (acute-phase reactant)
and erythrocyte
sedimentation rate
Raised in Crohn’s disease
Growth hormone, provocation tests
(using insulin, glucagon, clonidine, or
arginine in specialist centres)
Growth hormone deficiency
IGF-1 Disorders of the growth hormone axis,
including IGF-1 deficiency
0900 h cortisol and dexamethasone
suppression test
Cushing syndrome
MRI scan if neurological symptoms/signs Craniopharyngioma or intracranial tumour
Limited skeletal survey Skeletal dysplasia, scoliosis

32. GROWTH HORMONE TREATMENT OF
SHORT STATURE
• GH deficiency is treated with biosynthetic GH, which is given by subcutaneous injection,
usually daily.
Other indications include :
Turner syndrome
Prader–Willi syndrome
chronic kidney disease,
intrauterinegrowth restriction or small for gestational
age failure of catch-up growth.

33. •Recently, recombinant IGF-1has been
used to treat children with GH
resistance(e.g. Laron syndrome) and IGF-1
deficiency who wouldhave previously not
responded to GH treatment.

34. CASE HISTORY