A child presenting with short stature should have their height, weight, growth velocity, parental heights, dysmorphic features, pubertal development, bone age, and appropriate investigations assessed. Key factors include determining if growth is proportionate or disproportionate, calculating mid-parental height and target height for comparison, and evaluating bone age to distinguish constitutional growth delay from other causes. A thorough history, physical exam, and targeted laboratory tests can help identify underlying causes like genetic syndromes, malnutrition, endocrine disorders, or chronic illnesses.

1. Approach to a child with short stature
Abdulmoein Eid Al-Agha, MBBS, FRCPCH
Professor of Pediatric Endocrinology,
King Abdulaziz University Hospital
http://aagha.kau.edu.sa

2. A child whose height is below 2 standard
deviations for age , gender &race
M a le s
2 4 6 8 10 12 14 16 18 20
Age (y )
62
58
54
50
46
42
38
34
30
74
70
66
78
Height
(in)
Height
(cm)
200
190
180
170
160
150
140
130
120
110
100
90
80
70
0
+ 2
+ 1
-1
-2
-2.0 SD (3rd. percentile)
Definition

3.  The term ‘Dwarfism’ is no longer used for short
Stature.
 Sometimes, height is within the normal percentiles
but growth velocity is consistently below 25th
percentile over 6-12 months of observation.
 It should not be confused with failure to gain
weight.
 Target height should be calculated and plotted on
growth charts.
 It should be plotted on appropriate growth charts (
national chats).
 If syndromes, should be plotted on specific
syndrome charts.
 Turner, Noonan, Russell-silver ……)

4. Assessment of a child with short
stature

5. • Without footwear
• Heels & back touching
the wall
• Looking straight ahead
in frankfurt plane.
• Gentle but firm
pressure upwards
applied to the mastoids
from underneath
• Record to last 0.1cm
Height measurement

6. Body Proportion
 Lower segment (LS): Measure from the
symphysis pubis to the floor.
 Upper segment (US): Subtract the LS from the
height.
 U/L birth = 1.7
 U/L 3years = 1.3
 U/L > 7 years = 1
 Proportionate (involves both the trunk and the
lower extremities)
 Disproportionate (involves one more than the
other).

7. Factors affecting Growth
 Genetic factors
 Environmental factors
Intrauterine factors (maternal nutrition, smoking, infections,
teratogens, alcohol , HTN, DM,…. Etc.)
Extra uterine factors ( nutrition, psychological & social,
infections, medications …etc.)
 Chronic diseases
Endocrine factors (Growth hormone, Thyroid hormone,
Gonadotrophins)
 congenital malformations / syndromes

8. Factors affecting height
Intra
uterine
Growth
factors
IGF2
Insulin
Nutrition
&Thyroid hormone Nutrition ,Thyroid &
Growth Hormone
Nutrition ,Thyroid
Growth & Sex
Hormones
Birth 1-2
years
Childhood Puberty

9. Genetic Factors
 Single Gene Disorder VS Polygenic
 Mid parental height = Target height
Boy ( Fa + MO + 13) ÷2 =
cm
Girl (MO+ Fa-13)÷ 2 =
cm
± 8.5
± 8.5

10. Growth Velocity
 The fastest growth occurs in uterine life
 Peaks around 4th month of gestation
GV = 2.5 cm /week (130 cm / Y)
 Slows down till birth
 The second acceleration takes place at puberty

11. Growth velocity (cm / year)
Age Normal GV
(cm)
Abnormal
GV (cm)
1st Year 25 <16
2nd Year 12.5 <10
2 – 5 years 6.5 < 6
5 y – adolescence 5 - 6 <5
Adolescence 10 -12 --

12. Growth Velocity
 Girls have their peak growth velocity (9 cm / y)
during early puberty & before menarche
Tanner II – III)
 Boys have their peak growth velocity (10.3 cm / y)
mid puberty (Tanner III – IV)
 Boys’ pubertal growth spurt period is longer than
girls

13. Normal heights in children
• Birth length
• One year
• Two yrs
• Three yrs
• 4 yrs
• 8 yrs
• 12 yrs
50cm
75 cm
87.5 cm
93.75 cm growth
velocity
6 cm
per year
100 cm
125 cm
150 cm

14.  The most critical factor in evaluating the growth
is determining “growth velocity”
 Observation of child's height pattern in the form
of “crossing down percentile” 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
 A short child with non delayed bone age is of
much more concern
Important notices !!!

15. 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)

16. Proportionate Short Stature
 Normal Variants:
 Familial
 Constitutional Growth Delay
 Prenatal Causes:
 Intra-uterine Growth Restriction
Placental causes, Infections, teratogens
 Intra-uterine Infections
 Genetic Disorders (Chromosomal & Metabolic
Disorders)
 Malnutrition
 Malabsorption e.g. Celiac disease

17.  Chronic systemic diseases
 Psychosocial Short Stature
(Emotional deprivation)
 Endocrine Causes:
 Growth Hormone Deficiency/ insensitivity
Hypothyroidism
Juvenile Diabetes Mellitus
Cushing Syndrome
Pseudohypoparathyroidism
Idiopathic short stature

18. Disproportionate Short Stature
 Short Limbs:
Achondroplasia, Hypochondroplasia,
Chondrodysplasia punctata, Chondroectodermal
Dysplasia, Diastrophic dysplasia, Metaphyseal
Chondrodysplasia
Osteogenesis Imperfecta, Hereditary Rickets
 Short trunk:
spondyloepiphyseal dysplasia, mucolipidosis,
mucopolysaccharidosis, hemi vertebrae

19.  Detailed history
 Careful examination
 Laboratory evaluation
Diagnosis

20. History
 Date of onset
 Birth history
 Past medical and surgical history
 Systemic enquiry
 Developmental history
 Family and social history
 Nutritional history
 Allergies

21. Detailed systemic review Chronic illnesses
History
History of delay of puberty in parents Low
Birth Weight
Neonatal hypoglycemia, jaundice, micropenis
Dietary intake
Headache, vomiting, visual problem
Lethargy, constipation, weight gain
Social history
Diarrhea, greasy stools
Etiology
Constitutional delay of growth
SGA
GH deficiency/ Hypopituitarism
Malnutrition
Pituitary/ hypothalamic tumors
Hypothyroidism
Psychosocial dwarfism
Malabsorption
Clues to etiology from history

22. Pointer
Midline facial defects, micropenis, frontal
bossing, depressed nasal bridge, crowded teeth,
Signs of Rickets and / deformities
Pallor
Signs of malnutrition , clubbing, wasting
Short & obese
Metacarpal shortening
Cardiac murmur
Mental retardation
Etiology
GH deficiency / Panhypopituitarism
Renal failure, RTA, malabsorption, Hereditary
Renal failure, malabsorption, nutritional
anemia
PEM, malabsorption, celiac disease, cystic
fibrosis
Hypothyroidism, Cushing syndrome, Prader
Willi syndrome, GH deficiency
Turner syndrome, Pseudohypoparathyrodism
Congenital heart disease, Turner syndrome
Hypothyroidism, Down,
Pseudohypoparathyrodism
Clues to etiology from physical examination

23. Always Perform Tanner staging

24. Tanner Stages Females

25. Tanner Stages Males

26. Orchidometer

27. Investigations
Universal for all cases include:
 Bone age (mandatory to guide you).
 Thyroid function test (even if no other symptoms).
 Karyotype in girls (even if no dysmorphism).
 CBC, ESR.
 Electrolytes ,Renal &Liver function tests.
 Urinalysis & stool analysis.
 IgA anti-tissue transglutaminase as screening for
celiac (even if no other symptoms).

28. Bone Age
 Helpful in differentiating
the types of short stature
 The two most common
methods are: Greulich &
Pyle (GP) = USA
 Tanner – Whitehouse
(TW2) = U.K
 GP depending on Atlas
comparison
 TW2 is more sensitive
& more time consuming

29. Investigations
 Apart from universal previous investigations,
further ones depend on possible suspicion from
history & examinations for example:
 skeletal survey : skeletal dysplasia or hereditary rickets
 serum calcium, Phosphate, alkaline phosphatase, venous
gas, fasting sugar, albumin, transaminases for various types
of rickets
 sweet test: cystic fibrosis.
Jejunal biopsy : Celiac disease
 Growth factors +/ - GH stimulation test if GH deficiency is
suspected

30. GH deficiency
 Screening tests
 IGF-1, IGFBP3 (Neither are completely sensitive or
specific)
 Physiological GH stimulation
 exercise / deep sleep (delta wave)
 Pharmacological stimulation tests
Preferably two pharmacological tests
 These tests are best left for the specialized units
 Neuroimaging
 only if GH / Pituitary hormone deficiency is
confirmed ( after not before confirmation)

31. Familial Vs Constitutional
 hallmarks of familial (genetic) short stature is normal
bone age, normal growth velocity, & current height
lies within mid-parental height range.
 By contrast, constitutional growth delay is
characterized by delayed bone age & delayed
appearances of pubertal signs with positive family
history.
 Patients with constitutional growth delay typically
have a first or second-degree relative with
constitutional growth delay)

32. 100
•97th%
Malas 3-1 years
14 6

33. GH Deficiency
 Normal length & weight at birth.
 Growth delay seen > 1yr of age.
 Growth velocity < 4cm/year.
 BA < CA by at least 2 yrs.
 Infantile facial features.
 Normal intelligence.
 Exclusion of other causes.
 Exclusion of hypothyroidism prior of doing GH
stimulation test.
 Diagnosis by doing GH provocation test
 GH>10ng/ml excludes GH deficiency.

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35. Take Home Messages
 In any short child, we have to:
 Height & weight (Accurate & Serial measures) .
 Height velocity.
 Height of parents (Target Height).
 Calculate Mid Parental Height (MPH).
 Height age (Height of a person at the 50th percentile for their
age).
 Dysmorphic features .
 Systemic examination.
 Pubertal development staging.
 Bone Age.
 appropriates Investigations.