Approach to short and tall stature for MBBS students

1. Short & Tall Stature
Dr Kaushik Barot
Assistant Professor ,Pediatrics

2. SHORT STATURE: DEFINITION
• Height less than 3rd percentile or 2 SDs of the normal
for age, sex and reference population.
• Height velocity less than 25th percentile for age, sex
and reference population.
• Height < 1.5 SD of MPH/outside MPH range.
2

3. PHYSIOLOGICAL SHORT STATURE
• Familial short stature (FSS)
• Constitutional delay in growth and puberty (CDGP)
• Mixed

4. FAMILIAL SHORT STATURE
• MPH < 3rd percentile for
reference population
• Normal tempo of puberty
• Normal height velocity
• CA=BA>HA
• Final height is < 3rd centile
for reference population
but within target range

5. CONSTITUTIONAL DELAY IN
GROWTH AND PUBERTY
• Normal MPH
• Family h/o delayed
puberty but not always.
• BA=HA<CA
• Normal height velocity
• Delayed puberty
• Normal final height

6. CLUES FOR PATHOLOGICAL SHORT STATURE
• Height less then -3 SD
• Disproportionate SS
• Dysmorphism
• Height velocity less then 25 centile
• BMI increased or decreased
• Marked delay in bone age
• Major systemic manifestations

7. DISPROPORTIONATE SHORT STATURE
Short limbs (Increased US/LS)
• Achondroplasia
• Hypochondroplasia
• Pseudoachondroplasia
• Hypothyroidism
• Rickets
• Osteogenesis imperfecta
• Chondrodysplasia punctata
• Multiple epiphyseal
dysplasia
• Mesomelic dysplasia
• Acrodysostosis
Short trunk (Decreased US/LS)
• Spondyloepiphyseal
dysplasia
• Spondylometaphyseal
dysplasia
• Mucopolysachcharidoses
• Mucolipidoses
• Pots spine
• Alagille syndrome
Skeletal survey should be done to rule out skeletal
dysplasia in patients with disproportionate short
stature

9. ACHONDROPLASIA
Autosomal dominant (FGFR3 gene)
• Macrocephaly
• Short limbs (proximal shortening)
• Trident hands
• Bowing of legs (varus deformity)
• Obesity
• Neurological anomalies
• Champagne glass pelvis on xray
• Spinal lordosis
• foramen magnum stenosis

10. SPONDYLOEPIPHYSEAL DYSPLASIA

11. OSTEOGENESIS IMPERFECTA
1) Blue sclera
2) Bone fractures
3) Deafness
4) Teeth anomalies

12. PROPORTIONATE SHORT STATURE

13. MALNUTRITION
• Chronic malnutrition can give rise to stunting. W/H reduced more.
• Most common cause of pathological short stature in developing
countries.
• Delayed puberty.
• Iron, Calcium, Vitamin D & Zinc deficiency can cause short stature.
• IGF – 1 is diminished in under nutrition. GH levels may be low, normal
or high. The biochemical picture is suggestive of a form of GH
resistance.

14. IUGR (PRIMORDIAL DWARF)
• Arrest of fetal growth in early embryonic life. Reduced number of
cells and diminished growth potential
• 20-30% don’t show catchup growth & achieve there genetic
potential.
• Height is < 3 SD
• Growth velocity-altered
• Bone age-normal

15. GENETIC CAUSES
• Downs syndrome
• Turners syndrome
• Noonans syndrome
• Seckel syndrome
• Rubinstein-Taybi syndrome
• Prader Willi syndrome
• Russel Silver syndrome
• Di-George syndrome
• Williams syndrome
• Edward syndrome. (Trisomy 18)
• Patau syndrome.(Trisomy 13)

16. DOWNS SYNDROME
1:700 births

17. TURNERS SYNDROME
1:2000 births

18. SECKELS SYNDROME
bird-headed dwarfism

19. SYSTEMIC CAUSES
• Malabsorption syndromes- ex.Celiac disease and others.
• Chronic infections/ inflammatory conditions
• Chronic renal disease
• Chronic liver disease
• Rickets

20. CELIAC DISEASE
 Gluten sensitivity
 Diagnosis by Raised
anti TTG levels
 Duodenal biopsy s/o
villous atrophy
 Treated by lifelong
elimination of
wheat/barley/rye.

21. ENDOCRINE CAUSES
•BA< CA
•Hypothyroidism
•Growth hormone deficiency
•Growth hormone insensitivity
•Hypoparathyroidism
•Cushing’s syndrome
•Psychosocial dwarfism
•Type-1 Diabetes Mellitus
•BA > CA
•Precocious puberty
•Hyperthyroidism
•CAH
•obesity

22. HYPOTHYROIDISM

23. GROWTH HORMONE DEFICIENCY
• Doll like face
• Prominent forehead
• Saddle shape nose
• Maxillary hypoplasia
• Breech presentation,
hypoglycemia,
prolonged jaundice
in neonatal period
• Micropenis
• Undescended testes

24. CUSHINGS SYNDROME
Most common cause is exogenous administration of steroids

25. SYSTEMIC ILLNESS (non endocrine)
• INFECTIONS:- HIV,TB,Malaria,Leishmaniasis
• GIT:- Chronic diarrhea due to any cause
(Celiac disease/IBD/Food allergy)
Chronic liver disease, chronic pancreatitis
• R/S:- Recurrent RTI, Cystic fibrosis, Asthma
• CNS:- Cerebral palsy
• Renal:- Renal tubular acidosis, Chronic renal failure
• CVS:- Congenital heart disease, Cardiomyopathy

26. DRUGS CAUSING SHORT STATURE
• Glucocorticoids
• Sex steroids
• Dextroamphetamines
• Metheylphenidate

27. POINTERS FROM HISTORY ASSOCIATED DISEASES
• Birth size (length, weight,
head circumference) and
gestational age
• Birth history (breech
delivery, asphyxia, jaundice,
hypoglycaemia)
• Parental height
• Tempo of puberty in parents
• Family history
• Previous growth
information
• Social environment
• To identify small for gestational
age (symmetric vs asymmetric)
• Associated with pituitary
dysfunction
• To assess genetic potential to
grow
• To look for family h/o delayed
puberty
• To look for a genetic cause
• May provide clues about the
aetiology
• To look for emotional
deprivation
HISTORY AND EXAMINATION

28. POINTERS FROM HISTORY ASSOCIATED DISEASES
• Cardiac: dyspnoea,
anasarca, cyanosis
Pulmonary: chronic cough,
dyspnoea
• Intestinal: abdominal
distension, diarrhoea
• Renal: polyuria, vomiting,
fatigue
• Neurological: headache,
vomiting, focal neurological
deficits
• Previous surgeries:
intestinal resection
• Cardiac failure, cyanotic heart
disease
• Cystic fibrosis, bronchial
asthma, TB
• Malabsorption syndromes like
Celiac disease
• Chronic kidney disease, RTA
• Neurotuberculosis, sellar or
perisellar tumours, brain
tumours treated with RT
• Short bowel syndrome

29. CLINICAL POINTERS ASSOCIATED DISEASES
• Underweight
• Obesity
• Microcephaly
• Macrocephaly
• Short trunk or short
limbs dysmorphic
features.
• Frontal bossing,
mid-facial
hypoplasia
• Malnutrition, malabsorption syndromes,
hypocortisolism, metabolic disorders.
• SGA hypothyroidism, Cushing's syndrome,
IGF-1 deficiency.
• Pseudohypoparathyroidism
• Birth asphyxia, symmetric SGA, syndromes
• Hydrocephalus, achondroplasia, storage
disorders
• Skeletal dysplasia ,Primary growth
disorders (syndromes) IGF-1 deficiency

30. CLINICAL POINTERS ASSOCIATED DISEASES
• Round facies, facial
plethora, virillization
• Pharyngeal examination
• Bradycardia, dry skin,
goitre
• Hypertension
• Hepatosplenomegaly
• Pubertal stage
• Micropenis
• Fundoscopy, visual field
defect
• Signs of neglect or abuse
• Cushing’s syndrome
• Look for adenotonsillar hypertrophy
• Hypothyroidism
• Kidney disease, Cushing’s syndrome
• Hepatic, haematological or metabolic
disorder
• Early, normal or late puberty
• Hypogonadism, hypopituitarism
• Central nervous system pathology
• Emotional deprivation

31. Short stature*
Detailed medical history and physical examination
SHORT LIMB DWARFISM
US:LS increases
Proportionate short stature
Height velocity-NORMAL
PHYSIOLOGICAL
Disproportionate short stature
SHORT TRUNK DWARFISM
US:LS decreased
Height velocity-REDUCED
PATHOLOGICAL
BONE AGE/ SMR
Family History
Mid Parental height
MIXED
BA = CA
SMR=normal
Short parents
FAMILIAN SHORT STATURE
BA=CA<HA
BA < CA by 2-3 years
SMR delayed
F/H of CDGP
CDGP
BA=HA<CA
DYSMORPHISM
Genetic syndromes
NON-DYSMORPHIC
CONGENITAL ACQUIRED
• IUGR
• Genetic
syndromes
Check Height Velocity

32. Proportionate Short Stature ,non dysmorphic
ACQUIRED
OBESITY
BA < CA by 3 years or more
W/A<H/A
Weight is more affected
BA=HA<CA
BA>CA by 3 years or more
ENDOCRINE CAUSES
• Precocious puberty
• CAH
• Hyperthyroidism
W/A > H/A
Weight is less affected or may
be more
WORKUP
Level1,2,3 as needed
IDIOPATHIC
Extreme short stature
Level 1,2,3 IX normal
No cause found
MALNUTRITION
PSCHOSOCIAL
DWARFISM
CHRONIC INFECTIONS
ENDOCRINE CAUSES
 Hypothyroidism
 Growth hormone deficiency
 Growth hormone insensitivity
 Hypoparathyroidism
 Cushing’s syndrome
SYSTEMIC CAUSES
BONE AGE
Weight or Height is more
affected ?

33. WHEN TO EVALUATE?
• Severe short stature (height SDS <-3 SD).
• Severe growth deceleration (height velocity SDS <-2
SD over 12 months).
• Height <-2 SD and height velocity <-1.0 SD over 12
months.
• Height <-1.5 SD and height velocity <-1.5 SD over 2
years.
• Risk factors for GHD.

34. INVESTIGATIONS : STEP 1
• CBC, ESR
• RFT/LFT
• Chest X-ray
• X-ray Left hand and wrist-AP
• Serum electrolytes
• Serum calcium, phosphorous, alkaline phosphatase
• Urine analysis including urine pH
• Stool for parasites, fat globules and occult blood
• Tuberculosis workup if suspected

35. INVESTIGATIONS: STEP 2
• FT4/TSH
• FSH and Karyotyping (in girls)
• Arterial blood gas
• Serum Tissue transglutaminase IgA type
• LDDST (only if clinical suspicion)

36. INVESTIGATIONS: STEP 3
TO RULE OUT GROWTH HORMONE RELATED
DISORDERS
• IGF-1 and IGFBP3
• Growth hormone stimulation tests
• MRI pituitary

38. SHOX GENE MUTATION
• SHOX - SHort stature homeobOX
• Mild body disproportion
• Ranges from mild to severe form-Leri-Weill dyschondrosteosis
• LWS is triad of short stature, mesomelia, and Madelung deformity.
• SHOX mutation also associated with short phenotype in Turner's
syndrome.

39. CLINICAL EVALUATION OF SHORT STATURE
• Anthropometrics: Ht, Wt., HC, Arm span, U/L
segment ratio
• Dysmorphic features
• Nutritional status
• Thyroid gland
• Tanner staging for puberty development
• Neurological exam
- visual acuity and visual fields, nystagmus
- signs of hydrocephalus, focal signs
40

40. MANAGEMENT
Systemic diseases: Disease directed therapy
• Malnutrition: Nutrional rehabilitation
• Psychosocial dwarfism: Good social environment.
• Nutritional rickets: Vitamin D
• Distal RTA: Shohl’s solution
• Celiac disease: Gluten free diet
• Hypothyroidism: Thyroxine

41. GH 5,10,15,30 mg
Rs 18500

42. INDICATIONS FOR GH THERAPY

43. TALL STATURE
• Height more than 97th percentile of the normal for
age, or more than 2 SDs above the mean height for
that age, sex and reference population
• Most often constitutional
44

44. CAUSES OF TALL STATURE IN CHILDHOOD
•Postnatal overgrowth
• Familial (constitutional)
tall stature
• Exogenous obesity
• Hypogonadism
• Excess GH secretion
• Marfan syndrome
• Fragile X syndrome
• Homocystinuria
• Klinefelter syndrome
• XYY
•Foetal overgrowth
Maternal diabetes mellitus
Cerebral gigantism
Beckwith-Wiedemann
syndrome
Childhood tall stature with
adult short stature
Hyperthyroidism
Precocious puberty
45

45. 46
APPROACH TO CHILD WITH TALL STATURE

46. MANAGEMENT OF TALL STATURE
• Reassurance of the family and the patient in constitutional tall
stature. May be oestrogen if expected final height > 3SD
• Hypogonadism: Sex steroid
• Gigantism: excision of pituitary adenoma, somatostatin
analogues, pegvisomant or radiotherapy
• CAH: glucocorticoids and mineralocorticoid replacement
• Central precocious puberty: GnRH analogues
47

47. THANK YOU
48