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This document provides an overview of the approach to evaluating and managing short stature in children. It defines short stature and outlines normal growth patterns. Common causes of short stature include familial short stature, constitutional delay of growth, prenatal issues, malnutrition, chronic illness, and endocrine disorders. A thorough history, physical exam including growth measurements and Tanner staging, and screening lab tests can provide clues to identify underlying causes. Further testing may include bone age, thyroid function, genetics, celiac serology, and growth hormone stimulation if initial workup is normal. Management depends on the specific cause but may include diet, supplements, growth hormone therapy, or surgery.
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- 1. APPROACH TO SHORT STATURE DRMUHAMMAD ADEEL ZAFAR
- 3. Definition: Height below3rd centile or less than 2 standard deviations below the median height for that age & sex according to the population standard OR Even if the height is within the normal percentiles but growth velocity is consistently below 25th percentile over 6-12 months of observation The term ‘Dwarfism’ is no longer used for short stature Apprximately 3% children in any population will be short . Half of them normal variants(familial or constitutional short stature).
- 4. Normal height pattern • • • • Birthlength One year Two yrs Three yrs 4 yrs • 8 yrs • 12 yrs 50cm 75 cm 87.5 cm 93.75 cm 100 cm 125 cm 150 cm velocity 6 cm per year
- 5. • Normal (cm/yr) ▫ ▫ ▫ ▫ 1y:25 2y: 12 3y: 8 Then until puberty: 4-7 cm
- 7. Factors affecting growth •Birthsize • Nutrition • General well being • Psycosocial factors • Endocrinal factors
- 8. Causes Of ShortStature: A) Proportionate Short Stature 1) Normal Variants: i) Familial short stature ii) Constitutional Delay of Growth & puberty 2) Prenatal Causes: i) Intra-uterine Growth RestrictionPlacental causes, Infections, Teratogens ii) Intra-uterine Infections iii) Genetic Disorders (Chromosomal & Metabolic Disorders)
- 9. 3) Postnatal Causes: i)Under nutrition ii) Chronic Systemic Illness - Cardiopulmonary: CHD, Chronic Asthma, Cystic Fibrosis - Renal: RTA, CRF, Steroid dependent Nephrotic Syndrome - GI and Hepatic: Malabsorption, IBD, chronic liver disease - Chronic Severe Infections - Hematological : Thalassemia , Sickle cell anemia
- 10. iii) Psychosocial ShortStature (emotional deprivation) iv) Endocrine Causes: - Growth Hormone Deficiency/ insensitivity - Hypothyroidism - Juvenile Diabetes Mellitus - Cushing Syndrome - Pseudohypoparathyroidism - Precocious/ delayed puberty
- 11. B) Disproportionate ShortStature 1) With Short Limbs: - Achondroplasia, Hypochondroplasia, Chondrodysplasia punctata, Chondroectodermal Dysplasia, Diastrophic dysplasia, Metaphyseal Chondrodysplasia - Deformities due to Osteogenesis Imperfecta, Refractory Rickets 2) With Short Trunk: - Spondyloepiphyseal dysplasia, Mucolipidosis, Mucopolysaccharidosis - Caries Spine, Hemivertebrae
- 12. History Birth history Maternal illnessor use of certain drugs Birth weight & height Unexplained hypoglycemia, prolonged jaundice,or microphallus are suggestive of Congenital GH deficiency Growth pattern: a child who is short but growing at a normal rate & parallel to the 5th centile curve is more likely to have familial or constitutional short stature. A child who progressively deviates away from normal curve (specially after 24 months) is likely to be suffering from underlying medical disorder. Developmental history
- 13. • Dietary history& apetite • History of: • Abdominal pain, diarrhea, mouth ulcer, joint pain ,wt loss-IBD • Goitre, constipation, cold intolerance, wt gain,lethargyhypothyroidism • Headache ,vomiting ,visual disturbances raise suspicion of acquired hypopitutarism due to tumour or hydrocephalus. • Polyuria ,oliguria,hematuria –CRF
- 14. • Recurrent LRTI,otitismedia, malabsorbtion- cystic fibrosis • Pubertal development-delay occurs in constitutional delay,hypogonadism ,hypoitutarism,hypothyroidism • Emotional deprivation- psychosocial dwarfism • Steatorrhea , diarrhea –malabsorbtion • Drug history • Family history
- 15. Maneuvers Arm span, Height US/LS Carrying angle Ht,Wt, OFC Cubitus Valgus (Turner, Noonan)
- 16. 1st Manoevure Stand oppositeto the child & demonstrate each manoevure Screening for Asymmetry: • 1st , ask the child to put the palms together with arms out straight & stand with legs together e.g. RUSSELLSILVER syndrome ( IUGR, short stature, hemihypertrophy, triangular facies, Clinodactyly)
- 17. Maneuvers cont.. Thumbs on Shoulders HandsTogether Look from Back Low hair line Asymmetry Segment shorting (R-S syndrome) Short neck Webbing Cleidocranial dysostosis (Achondroplasia) Proximal Distal (Acrosomelic dysplasia)
- 18. Maneuvers cont.. Palms up Makea fist Simian crease Bend over & touch toe Short forth metacarpal Clinodactyly Turner, FAS, Pseudo hypoparathyroidism Scoliosis – PWS, Noonan.
- 19. 2nd Manoevure Assess theCarrying Angle: Ask the child to hold out the arms straight down along the trunk, with palms forward • Increased in Turner syndrome
- 20. 3rd Manoevure Ask thechild to touch the tips of the thumbs to the tips of the shoulder • Rhizomelic: (proximal segment shortening), thumbs overshoot e.g. Achondroplasia, hypochondroplasia • If the thumbs do not reach the shoulders, its either Mesomelic (middle segment) or Acromelic ( distal segment shortening)
- 21. 4th Manoevure Ask thechild to hold the palm up • Look for simian crease (down syndrome • Clinodactyly (down, Russell-silver syndrome) Ask the child to make a fist • Look for a short 4rth metacarpal (pseudohypoparthyroidism)
- 22. 5th Manoevure Examine theback look for Kyphosis & scoliosis • Ask the child to bend forward touching the toes with legs straight, look from the back at the same level for fuller assessment of scoliosis
- 23. Assessment of achild with short stature Accurate height measurement& height velocity • Below 2 yrs- supine length with infantometer • For older children- Stadiometer Assessment of body proportion Upper segment: Lower segment ratio Increase: rickets, achondroplasia, untreated hypothyroidism Decrease: spondyloepiphyseal dysplasia, vertebral anomalies
- 24.
- 25. Arm span: Short:skeletal dysplasia Long:marfansyndrome Weight Increased wt/ht :endocrinal Decreased or normal wt/ht: chronic systemic illness Comparison with population norms Height plotted on appropriate growth charts & expressed as centile or SD score
- 26. Comparison with child’sown genetic potential Mid parental height for boys = mother's height + 13 + father's height /2 Mid parental height for girls = mother's height + father's height – 13 /2 Sexual maturity rating ( SMR): Also known as Tanners stages Used in older children
- 27. Males: SMR • Stage 1 •Stage 2 • Stage 3 • Stage 4 • Stage 5 thighs Pubic Hair Preadolescent Scanty, long, slightly pigmented, primarily at base of penis Darker, coarser, starts to curl, small amount Coarse, curly; resembles adult type but covers smaller area Adult quantity and distribution, spread to medial surface of
- 28. • SMR Genitals Penis • Stage1 • Stage 2 Testes Preadolescent Beginning enlargement of testes and scrotum; scrotal skin reddened, texture altered • Stage 3 Longer Further enlargement of testis and scrotum • Stage 4 Larger in breadth, Testes & scrotum nearly glans penis develops adult • Stage 5 Preadolescent Slight or no enlargement Adult Adult
- 29. SMR Females SMR Pubic Hair •Stage 1 Preadolescent • Stage 2 Sparse, slightly pigmented, straight, at medial border of labia • Stage 3 • Stage 4 • Stage 5 Darker, beginning to curl, increased amount Coarse, curly, abundant, but amount less than in adult Adult feminine triangle, spread to medial surface of thighs
- 30. SMR Breasts • Stage1 Preadolescent; elevation of papilla only • Stage 2 Breast and papilla elevated as small mound; areola diameter increased • Stage 3 Breast and areola enlarged with no separation of their contours • Stage 4 Projection of areola and papilla to form secondary mound above the level of the breast • Stage 5 Mature; projection of papilla only, areola has recessed to the general contour of the breast
- 31. Pointers to etiologyof short stature Pointer Etiology Midline defects, micropenis, Frontal bossing, depressed nasal bridge, crowded teeth, GH deficiency Rickets Renal failure, RTA, malabsorption Pallor Renal failure, malabsorption, nutritional anemia Malnutrition PEM, malabsorption, celiac disease, cystic fibrosis Obesity Hypothyroidism, Cushing syndrome, Prader Willi syndrome Metacarpal shortening Turner syndrome, pseudohypoparathyroidism Cardiac murmur Congenital heart disease, Turner syndrome Mental retardation Hypothyroidism, Down/ Turner syndrome, pseudohypoparathyroidism
- 32. Clues to etiologyfrom examination Examination finding Etiology Disproportion Skeletal dysplasia, rickets, hypothyroidism Dysmorphism Congenital syndromes Hypertension CRF Goitre, coarse skin Hypothyroidism Central obesity, striae Cushing syndrome
- 34. Investigation: Level 1 (essential investigations): • • • • • Complete CBCwith ESR BONE AGE Urinalysis ( Microscopy, pH, Osmolality) Stool ( parasites, steatorrhea, occult blood) Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, venous gas, fasting sugar, albumin, transaminases)
- 35. Investigation Level 2: • Serumthyroxine, TSH • Karyotype to rule out Turner syndrome in girls If above investigations are normal and height between -2 to -3 SD Observe height velocity for 6-12 months If height < 3SD level 3 investigations Level 3: Celiac serology ( anti- endomysial or anti- tissue transglutaminase antibodies) Duodenal biopsy GH stimulation test with Clonidine or insulin & serum insulin like GF-1 levels
- 36. Management • Counselling ofparents ( for physiological causes) • Dietary advice ( Undernutrition, Celiac disease,) • Limb lengthening procedures ( skeletal dysplasias ) • Levothyroxine ( In Hypothyroidism) • GH s/c injections ( GH deficiency, Turner syndrome, prader-willi syndrome, SGA, CRF prior to transplant)
- 37. When to stoptherapy? • Growth rate < 1 inch/ year. • A bone age> 14 in girls and >1 6 in boys • Decision by the parents
- 38. FAMILIAL SHORT STATURE CONSTITUTIONALDELAY •SEX M=F M>F •Length at birth Normal Short stature Normal but falls below 5th centile 1st 3yrs Delayed puberty •Parents stature Short Average •Height velocity Normal Normal •Puberty Normal Delayed • Bone age BA=CA BA<CA •Final height Short Normal •Family history