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Short stature
1. Short stature is defined as a height less than the 3rd percentile for age, sex and population or more than 2 standard deviations below the mean height. 2. Physiological short stature includes familial short stature and constitutional delay of growth and puberty. Pathological short stature can be due to disproportionate short stature from skeletal dysplasias, acquired conditions like malnutrition or genetic syndromes. 3. Evaluation of short stature involves detailed history, physical exam, bone age assessment and screening for endocrine or systemic illnesses based on three levels of investigation. Management depends on identifying and treating the underlying cause.
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Short stature
- 1. Short & TallStature 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 GROWTHAND 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 PATHOLOGICALSHORT 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 Shortlimbs (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 (FGFR3gene) • 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
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- 11. OSTEOGENESIS IMPERFECTA 1) Bluesclera 2) Bone fractures 3) Deafness 4) Teeth anomalies
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- 13. MALNUTRITION • Chronic malnutritioncan 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 • Downssyndrome • 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)
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- 19. SYSTEMIC CAUSES • Malabsorptionsyndromes- ex.Celiac disease and others. • Chronic infections/ inflammatory conditions • Chronic renal disease • Chronic liver disease • Rickets
- 20. CELIAC DISEASE Glutensensitivity 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 •Growthhormone deficiency •Growth hormone insensitivity •Hypoparathyroidism •Cushing’s syndrome •Psychosocial dwarfism •Type-1 Diabetes Mellitus •BA > CA •Precocious puberty •Hyperthyroidism •CAH •obesity
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- 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 commoncause is exogenous administration of steroids
- 25. SYSTEMIC ILLNESS (nonendocrine) • 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 SHORTSTATURE • Glucocorticoids • Sex steroids • Dextroamphetamines • Metheylphenidate
- 27. POINTERS FROM HISTORYASSOCIATED 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 HISTORYASSOCIATED 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 ASSOCIATEDDISEASES • 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 ASSOCIATEDDISEASES • 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 medicalhistory 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 : STEP1 • 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 TORULE 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 OFSHORT 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: Diseasedirected 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 Rs18500
- 42. INDICATIONS FOR GHTHERAPY
- 43. TALL STATURE • Heightmore 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 TALLSTATURE 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 CHILDWITH TALL STATURE
- 46. MANAGEMENT OF TALLSTATURE • 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
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