1 / 82

APPROACH TO A CHILD WITH SHORT STATURE

APPROACH TO A CHILD WITH SHORT STATURE. DR.V.V.RATNAKAR REDDY dr m mallikarjuna. Why we need to concern?. BECAUSE………………….. IT CAN BE A SIGN OF DISEASE, DISABILITY, & A SOCIAL STIGMA CAUSING PSYCHOLOGICAL STRESS .

bjorn
Download Presentation

APPROACH TO A CHILD WITH SHORT STATURE

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. APPROACH TO A CHILD WITH SHORT STATURE DR.V.V.RATNAKAR REDDY dr m mallikarjuna

  2. Why we need to concern? • BECAUSE………………….. IT CAN BE A SIGN OF DISEASE, DISABILITY, & A SOCIAL STIGMA CAUSING PSYCHOLOGICAL STRESS

  3. Generally accepted definition of normal range -2.0 SD (2.3 percentile) Definition A child whose height is below 2 standard deviations for age and gender

  4. Definition: • Height below 3rdcentile 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 • It should not be confused with FTT as it is associated with greater impairment in wt.gain than linear growth resulting in decresd W/H.& THE LINEAR GROWTH affected is almost always SECONDARY. • IIIIIIIII Essential Pediatrics, 7th Edition, OP Ghai; Fima Lifschitz- Pediatric Endocrinology

  5. Growth Physiology Environment Genetic factors Growth Hormones • Growth hormone • Thyroid hormone • Gonadotrophins Dietary factors

  6. Factors affecting height

  7. Dysmorphic Normal Proportionate Dis-Proportionate • Russle Silver • Noonan’s • Turner syndrome • Downs syndrome • PraderWilli • Pseudo-hypoparathyroidism • 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) SHORTSTATURE

  8. Short Child That Looks Normal Calculate TH Not Within Target Range Within Target Range Watch GV Observe – GV Normal Normal growth velocity Low growth velocity Low birth weight Growth delay Idiopathic SS Chronic systemic disease Endocrine disorder Genetic, chromosomal Psychosocial

  9. Causes Of Short Stature: • Proportionate Short Stature 1) Normal Variants: i) Familial ii) Constitutional Growth Delay 2) Prenatal Causes: i) Intra-uterine Growth Restriction- Placental causes, Infections, Teratogens ii) Intra-uterine Infections iii) Genetic Disorders (Chromosomal & Metabolic Disorders)

  10. iii) Psychosocial Short Stature (emotional deprivation) iv) Endocrine Causes: (With increased W/H) - Growth Hormone Deficiency/ insensitivity - Hypothyroidism - Juvenile Diabetes Mellitus - Cushing Syndrome - Pseudohypoparathyroidism

  11. B) Disproportionate Short Stature 1) With Short Limbs: - Achondroplasia, Hypochondroplasia, Chondrodysplasiapunctata, Chondroectodermal Dysplasia, Diastrophic dysplasia, Metaphyseal Chondrodysplasia - Deformities due to OsteogenesisImperfecta, Refractory Rickets 2) With Short Trunk: - Spondyloepiphyseal dysplasia, Mucolipidosis, Mucopolysaccharidosis - Caries Spine, Hemivertebrae

  12. Comparison

  13. Genetic Syndromes: • Chromosomal Disorders - Turner syndrome ( XO) : an incidence of 1 in 2000 live births - should be ruled out even if typical phenotypic features are absent - Other Eg: Noonan,-looks like turners but both sexes are afectd. Silver- Russel – with iugr child Secklesyndrome-bird headed dwarfism. B) Inborn Errors of Metabolism -eg. Galactosemia, Aminoaciduria

  14. Intra-uterine Growth Restriction • Arrest of fetal growth in early embryonic life causes reduction in total number of cells, leading to diminished growth potential in postnatal life • BW -<10thcentile for GA. • Most of these babies show catch-up growth by 2yrs of age, but 20-30% may remain short. • AETIOLOGY: Subtle defects in the GH-IGF axis • Growth Velocity- normal • BA = CA • Learning disabilities could be present

  15. Under nutrition: • One of the commonest cause of short stature in India. • Aetiology: PEM, Anemia & trace element deficiency such as Zinc , calcium def are common causes. • Child usually appear STUNTED, with POOR Wt. gain, Wasted muscles. • BA < CA.: • Usually child achieves catch up growth with restoration of nutrition & may be dwarf if undernutrition is profound. • Diagnosis: good dietary history, anthropometric measurements

  16. Chronic Systemic Illness: • Chronic Infections -eg:TB, Malaria, Leishmaniasis, Chr. pyelonephiritis - Growth retardation is due to impaired appetite, decreased food intake, increased catabolism, poor utilization of food, vomiting & diarrhoea 2) Malabsorbtion Syndromes - eg: chronic recurrent infective diarrhoea, lactose intolerance, cystic fibrosis, celiac disease, giardiasis, cow’s milk allergy, abetalipoproteinemia IBD&COELIAC DISEASE- manifest with growth delay even before onset of GI symptoms.

  17. 3) Birth defects: CHD, urinary tract & nervous system anomalies 4) Miscellaneous:(EVIDENCED CLINICALLY) Cirrhosis of liver, bronchiectasis, acquired heart diseases, cardiomyopathies, RTA& Nephrogenic DI- may present from birth with FTT.

  18. 2) Laron’s Syndrome - Metabolic disorder, AR inheritence - Clinically resembles hGH deficiency, but blood hGH levels are high - Somatomedin levels are low 3) Type 1 Diabetes Mellitus - significant growth retardation - insulin has chondrotropic effect

  19. 4) Hypothyroidism - Short, stocky child; dull looking, puffy face - Thickened skin & sct giving myxomatous appearance, cold intolerance - Protuberant abdomen with umbilical hernia - Infantile sexual development & delayed puberty - Bone age markedly delayed Diagnosis- Low T4 levels, high TSH levels

  20. 5) Cushing syndrome: Growth retardation ( early feature) • Other features: Obesity, plethoric moon facies, abdominal striae , hypertension, decreased glucose tolerance 6) Gonadal disorders: - Adiposo genital dystrophy ( Frohlich syndrome) moderate growth retardation, bone age normal or slightly delayed - Precocious puberty: early fusion of epiphyseal centres

  21. Psychosocial short stature: • emotional deprivation dwarfism, maternal deprivation dwarfism, hyperphagic short stature • Functional hypopituitarism - low IGF-1 levels & inadequate response to GH stimulation • Type1- below 2 yrs, failure to thrive, no GH deficiency. • Type2- in > 3 yrs ,due to emotional deprivation. • Slow GV, delayd BA, resume normal growth if stimulus is removed • Other behavioural disorders: enuresis, encorpresis, sleep & appetite disturbances, crying spasms, tantrums • Dental eruptions & sexual development delayed

  22. Skeletal dysplasias: • chondrodysplasias • Inborn error in formation of components of skeletal system causing disturbance of cartilage & bone • Abnormal skeletal proportions & severe short stature • Diagnosis- family history, measurement of body proportions, examination of limbs & skulls, skeletal survey

  23. Diagnosis • Detailed history • Careful examination • Laboratory evaluation

  24. The child is short and short for the family – what next? • Is the child very much below the 3rd percentile or just below? • If just below and within Target range then watch growth velocity for 6 months to one year • If very much below the 3rd percentile and target range - investigate

  25. Now Look At the Proportions • Is the Child Disproportionate ? • Take sitting height and standing height • Calculate Subischeal leg length • Use proportion charts or tables • Short legs – Skeletal Dysplasia • Short spine – Metabolic and storage disorders and rare skeletal dysplasia

  26. Clues to etiology from history

  27. Pointers to etiology of short stature

  28. Physical examination • Weight measurement -W/A >H/A i.e. fat & short- Endocrine. -H/A> W/A but both are below the chronological age with thin & short- Under nutrition / chronic illness. • Systemic examination to rule out systemic illness • skeletal system examination including spine • Dysmorphic features • Tanner staging

  29. Clues to etiology from examination

  30. Assessment of a child with short stature 1) Accurate height measurement • Below 2 yrs- supine length with infantometer. • For older children- harpenden Stadiometer

  31. Height measurement • Infanto meter: • Child should be relaxed • Head should be placed against an inflexible board. • Legs fully extended • Feet placed perpendicular onto movable flat board.

  32. Height measurements • 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

  33. SITTING HEIGHT: • It is the CRL in <2yrs of age • Measured uptoischialtuberosity. • Using sitting height stadiometer. • At birth:70% • At 3yrs: 57% • Adults:50% • SUB ISCHIAL LEG LENGTH: • Height-sitting height. • USEFUL IN MEASURING THE upper to lower body praportions.

  34. 2) Assessment of body proportion Upper segment: Lower segment ratio Increase: rickets, achondroplasia, untreated hypothyroidism Decrease: spondyloepiphyseal dysplasia, vertebral anomalies • Comparison of arm span with height

  35. 3) Comparison with child’s own genetic potential Mid parental height for boys = mother's height + father's height /2 + 6.5cm Mid parental height for girls = mother's height + father's height /2 – 6.5cm • usually the projected height is +/- 8cm or 2 S.D. 4) Sexual maturity rating ( SMR): • Also known as Tanners stages • Used in older children • Total 5 stages included in each gender

  36. Always Perform Sexual Maturity Rating

  37. GENITALS IN MALE

  38. Males: SMR Pubic Hair • Stage 1 Preadolescent • Stage 2 Scanty, long, slightly pigmented, primarily at base of penis • Stage 3 Darker, coarser, starts to curl, small amount • Stage 4 Coarse, curly; resembles adult type but covers smaller area • Stage 5 Adult quantity and distribution, spread to medial thighs surface of thighs

  39. SMR Females pubic hair • Stage 1: Preadolescent • Stage 2: Sparse, slightly pigmented, straight, at medial border of labia • Stage 3: Darker, beginning to curl, increased amount • Stage 4: Coarse, curly, abundant, but amount less than in adult • Stage 5: Adult feminine triangle, spread to medial surface of thighs.

  40. SMR Breasts • Stage 1 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

  41. Investigation: Level 1 ( essential investigations): • Complete hemogram with ESR, hepatic& renal profile- to r/o chronic disease. • BONE AGE (x ray of left wrist) • Urinalysis ( Microscopy, pH, Osmolality) • Stool ( parasites, steatorrhea, occult blood) • Blood ( Calcium, Phosphate, alkaline phosphatase, venous gas, fasting sugar, albumin, transaminases) • karyotyping & pelvic u/s .

  42. 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 2 investigations

  43. BONE AGE ( BA ): • Bone age assessment should be done in all children with short stature • Appearance of various epiphyseal centers & fusion of epiphyses with metaphyses tells about the skeletal maturity of the child • Conventionally read from Xray of hand & wrist using Gruelich-Pyle atlas or Tanner- Whitehouse method

  44. What does bone age tell you? • Skeletal maturity • Correlates closely with SMR • Speaks for remaining growth potential • Helps in adult height prediction • Bone age delay of more than 2 SD i.e. about 2 years is significant

  45. Methods of bone age assessment • Tanner White House • Greulich and Pyle • No of carpals – 2

More Related