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Approach to a child with short stature AG

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Approach to a child with short stature

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Approach to a child with short stature AG

  1. 1. Approach To A Child With Short Stature Moderated by Dr. Mohd. Haseeb Sir Presented by Dr. Akshay Golwalkar
  2. 2. Why we need to concern? BECAUSE………………….. IT CAN BE A SIGN OF DISEASE, DISABILITY & A SOCIAL STIGMA CAUSING PSYCHOLOGICAL STRESS 
  3. 3. Definition* Height below 3rd 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 or Excessively short for mid mid parental or target height Males Age (y ) 30 34 38 42 46 50 54 58 62 66 70 74 78 Height(in) Height(cm) 2 4 6 8 10 12 14 16 18 20 70 80 90 100 110 120 130 140 150 160 170 180 190 200 0 +2 +1 -1 -2 -2.0 SD (2.3 percentile) *Essential Pediatrics, 7th Edition OP Ghai; IAP spatiality series Endocrinology 2nd edition
  4. 4. Approximately 3% children in any population will be short* Approximately half will be physiological ( familial or constitutional ) & half will be pathological short stature* Most common cause is malnutrition in developing countries* Familial or constitutional is the leading cause in developed countries* *IAP spatiality series Endocrinology 2nd edition
  5. 5. Growth Physiology Growth Environment HormonesGenetic factors Dietary factors •Growth hormone •Thyroid hormone •Gonadotrophins
  6. 6. Factors affecting height Intra uterine Growth factors Nutrition Thyroid harmone Growth Hormone FSH LH GH Thyroid Birth 1 year 2 years 4years 8years Puberty Adult
  7. 7. Endocrinology of Postnatal Growth Deficiency of thyroxin blunts GH secretion. GROWTH Linear Growth Ponderal Growth Skeletal maturation & Bone Growth Linear Growth Increased Growth Velocity @ puberty
  8. 8. Etiology of short stature* Physiological – Familial – Constitutional short stature Pathological – undernutrition – Chronic systemic illness – Hormonal deficiency states – Psychosocial dwarfism – SGA – Skeletal dysplasias – Genetic syndromes *Essential Pediatrics, 7th Edition OP Ghai; IAP spatiality series Endocrinology 2nd edition
  9. 9. Familial Vs Constitutional* Feature Familial Short Stature Constitutional Short Stature 1) Sex Both equally affected More common in boys 2) Family History Of short stature Of delayed puberty 3) Height Velocity Normal Normal 4) Puberty Normal Delayed 5) Bone Age Normal Less than chronological age 6) Final Height Short, but normal for target height Normal *IAP spatiality series Endocrinology 2nd edition
  10. 10. Approach to a child with short stature History & “observation” Anthropometric measurements Plotting on growth chart Physical examination workup
  11. 11. History Birth history Nutritional history Chronic disease history (asthma, CHD, CLD,CRF, chronic diarrhea) Drugs….chronic steroid therapy Family history
  12. 12. History Etiology History of delay of puberty in parents Constitutional delay of growth Low Birth Weight SGA Neonatal hypoglycemia, jaundice, micropenis GH deficiency Dietary intake Under nutrition Headache, vomiting, visual problem Pituitary/ hypothalamic SOL Lethargy, constipation, weight gain Hypothyroidism Polyuria CRF, RTA Social history Psychosocial dwarfism Diarrhea, greasy stools Malabsorption Clues to etiology from history
  13. 13. 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 Pointers to etiology of short stature
  14. 14. 1) Accurate height measurement Below 2 yrs*- supine length with infantometer. Assessment of a child with short stature *IAP spatiality series Endocrinology 2nd edition
  15. 15. Assessment of a child with short stature For older children- Harpenden Stadiometer
  16. 16. Height measurements Without footwear Heels & back touching the wall Looking straight ahead
  17. 17. Growth chartTarget centiles
  18. 18. Increments in Height* Age Increase in height Birth 50cm 1st yr age 25cm 2nd yr age 10cm 3rd yr age 7.5cm 4th yr age 5cm 5th yr age 5cm/year *IAP spatiality series Endocrinology 2nd edition
  19. 19. Growth Velocity* The most critical factor in evaluating the growth is determining GROWTH VELOCITY. Observation of childs height pattern in the form of “CROSSING PERCENTILE LINES” on a linear growth curve is the simplest method of observing abnormal growth velocity.* *IAP spatiality series Endocrinology 2nd edition
  20. 20. At least 3 measurements with preferably 6 months interval in between is necessary to comment on growth pattern.* *IAP spatiality series Endocrinology 2nd edition Growth Velocity*
  21. 21. Growth Monitoring* Age Ht/Length Wt Head circumference Others Birth Yes Yes Yes -- 1.5, 3.5 6, 9, 15 mths Yes Yes Yes -- 1.5 to 3 yrs 6 monthly 6 monthly 6 monthly Mid arm 3.5 to 5.5 yrs 6 monthly 6 monthly -- 6 to 8 yrs 6 monthly 6 monthly -- BMI & SMR 9 to 18 yrs Yearly Yearly -- BMI & SMR yearly *IAP spatiality series Endocrinology 2nd edition
  22. 22. Target height* Target height in cm for a girl = [(mother's height in cm + father's height in cm) /2] - 6.5 cm Target height in cm for a boy = [(mother's height in cm + father's height in cm) /2] + 6.5 cm *IAP spatiality series Endocrinology 2nd edition
  23. 23. Short Child That Looks Normal* Normal growth velocity Low growth velocity Low birth weight Growth delay Idiopathic SS Chronic systemic disease Endocrine disorder Genetic, chromosomal Psychosocial Calculate the target height Within Target RangeNot Within Target Range Watch GV Observe – GV Normal
  24. 24. Assessment of body proportion Lower segment (LS) pubic symphysis to ground Upper segment (US) total height/length – LS US to LS ratio is 1.7 at birth decreases by 0.1 every year to reach 1 at 7 to 10 years of age.* *IAP spatiality series Endocrinology 2nd edition
  25. 25. Arm span Upper segment: Lower segment ratio Increase : – Achondroplasia – Skeletal dyspalsias – untreated hypothyroidism Decreases : – Short trunk (scoliosis) – Short neck (klippel-Feil syndrome) – Arachnodactyly (Marfan’s, homocystinuria) Assessment of body proportion
  26. 26. Physical examination Weight measurement (fat & short….endocrine, thin & short……under nutrition or chronic illness) Systemic examination to rule out systemic illness skeletal system examination including spine Dysmorphic features Tanner staging
  27. 27. Clues to etiology from examination* Examination finding Etiology Disproportion Skeletal dysplasia, rickets, hypothyroidism Dimorphism Congenital syndromes Pallor Chronic anemia, chronic renal failure Hypertension Chronic renal failure Frontal bossing, depressed nasal bridge, crowed teeth, small penis Growth hormone deficiency Goiter, coarse skin Hypothyroidism Central obesity, striae Cushing syndrome *Essential Pediatrics, 7th Edition OP Ghai;
  28. 28. Workup for short stature Level 1* ( essential investigations): Complete hemogram with ESR Urinalysis Stool Blood BONE AGE *IAP spatiality series Endocrinology 2nd edition
  29. 29. 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 Bone Age (BA)
  30. 30. 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
  31. 31. Methods of bone age assessment Tanner White House Greulich and Pyle
  32. 32. TW Method - 13 Bones
  33. 33. G & P Method Patient’s film is compared with the standard of the same sex and nearest age It is next compared with adjacent standard, both older and younger to get the closest match
  34. 34. Bone age gives an idea as to what proportion of adult height has been achieved by the child & what is remaining potential for height gain* BA is delayed compared to chronological age in almost all causes of short stature* Exceptions: Familial short stature, Precocious puberty *IAP spatiality series Endocrinology 2nd edition
  35. 35. Delayed bone age Constitutional short stature Hypothyroidism Celiac disease GH deficiency
  36. 36. Level 2*: Serum thyroxine, 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 Workup for short stature if Level 1 investigations are normal and bone age is delayed proceeds to level 2* *IAP spatiality series Endocrinology 2nd edition
  37. 37. HYPOTHYROIDISM Short, stocky child, dull looking, puffy face. Thickened skin 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* *IAP spatiality series Endocrinology 2nd edition
  38. 38. HYPOTHYROIDISM CONGENITAL (UNTREATED):  Slow growth vel.  Delayed BA  Constipation  Mental retardation unless treated at 2-3 months. ACQUIRED(UNTREATED)  Asymptomatic  Delayed growth  Constipation  Normal IQ if developed after 2yrs of age  Dry skin
  39. 39. Ideally every neonate should be screened for TSH levels before discharging from nursery.* Regardless of symptoms all children with significant short stature should be screened for hypothyroidism.* Rx: thyroxine according to the age appopriate dosage HYPOTHYROIDISM *IAP spatiality series Endocrinology 2nd edition
  40. 40. Turners syndrome Short stature may be the only clinical manifestation. Karyotyping should be considered in a short female child with pubertal delay. SHOX gene which is required for the normal growth is present only in a half a dose in these children
  41. 41.  Webbed neck  Short metacarpals  Shield shaped chest  Hyperconvex finger n toe nails  Cubitus valgus with wide carrying angle of arms  Gonadal dysgenesis with incomplete or absent puberty  No pubertal growth spurt.
  42. 42. Level 3*: GH stimulation test with Clonidine or insulin & serum insulin like GF-1 levels Neuroimaging Celiac serology ( anti- endomysial or anti- tissue transglutaminase antibodies) Duodenal biopsy If height < -3 SD → proceeds to level 3 investigations* *IAP spatiality series Endocrinology 2nd edition
  43. 43. GROWTH HORMONE DEFICIENCY(GHD) Normal length & weight at birth. Growth delay seen >1yr of age BA < CA by at least 2 yrs Normal intelligence & delayed BA. Infantile gonadal development
  44. 44. Growth hormone actions Growth Hormone GH receptors Liver Synthesis of IGF1 Metabolic effects IGF receptors Growth Hormone GH receptors GH receptors Liver Synthesis of IGF1 Proliferation of Cells Cellular growth Linear growth Metabolic effects (Anabolic) IGF receptors
  45. 45. GROWTH HORMONE DEFICIENCY(GHD) CONGENITAL: -Perinatal asphyxia, -CNS malformations (septo optic dysplasia) ACQUIRED -idiopathic -tumors ( craniopharyngioma, glioma, germinoma) -trauma/surgery -cns infection/irradiation
  46. 46. Physical features Cherubic face; fair complexion Normal IQ Frontal bossing Midfacial crowding Truncal obesity Micropenis
  47. 47. Workup for GH def GH deficiency is diagnosed by a low level of serum insulinlike growth factor-1 (IGF-1) in the presence of deficiency of 3 or more pituitary hormones*. Patients who have deficiency of 2 or less pituitary hormones or pituitary-hypothalamic disease with low IGF-1 levels require stimulation tests to establish the diagnosis of GH deficiency*. *Hartman ML, Crowe BJ, Biller BM, Ho KK, Clemmons DR, Chipman JJ. Which patients do not require a GH stimulation test for the diagnosis of adult GH deficiency?. J Clin Endocrinol Metab. Feb 2002;87(2):477- 85.
  48. 48. Workup for GH def GH stimulation test Insulin-induced hypoglycemia is the most powerful stimulus for GH secretion; however, this test also carries the greatest potential for harm*. Alternate GH stimulants: Arginine*, levodopa, Propranolol with glucagon, Exercise, Clonidine, Epinephrine. *Molitch ME, Clemmons DR, Malozowski S, Merriam GR, Vance ML,. Evaluation and treatment of adult growth hormone deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. Jun 2011;96(6):1587-609
  49. 49. GH stimulation test INTERPRETATION: Peak stimulated growth hormone conc. <5.1ng/ml* in response to GH stimulation test or <11.1 ng/ml in response to combined Arg- GHRH stimulation test with patients having BMI less than 25*. *Molitch ME, Clemmons DR, Malozowski S, Merriam GR, Vance ML,. Evaluation and treatment of adult growth hormone deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. Jun 2011;96(6):1587-609
  50. 50. IGF-1 and IFGBP-3 measurement* IGFBP-3 and IGF-1 serum levels represent a stable and integrated measurement of GH production and tissue effects IGF-1 have superior diagnostic sensitivity and specificity compared with IGFBP 3. The combination of IGF-1 and IGFBP-3 measurements is superior when compared to individual tests Workup for GH def *IAP spatiality series Endocrinology 2nd edition
  51. 51. Interpretation of results* If IGF-1 and IGBP-3 level are normal then it shows that GH level is also normal (no need for GH testing) If IGF-1 and IGBP-3 level are low then it may be due to GH def or GH resistance-----go for GH basal level and after stimulation If GH also low then GH def, if normal or high then GH resistance ( Primary IGF-1 def) *IAP spatiality series Endocrinology 2nd edition
  52. 52. growth hormone therapy* Currently approved as per FDA IN: GHD TURNERS SYNDROME RENAL INSUFFIENCY PRADER WILLE SYNDROME NORMAL CHILDREN WITH HEIGHT <2.4 SD SGA who have not reached 5th centile by 2yrs. Shox (short stature homeobox gene)deficiency. *IAP spatiality series Endocrinology 2nd edition
  53. 53. GH THERAPY* DOSE: 0.1U/KG/DAY s.c. at night time Follow up & watch for at least one year before starting the treatment. Earlier is always better & ideal is 3-4yrs Never delay beyond 7-8yrs Usually growth velocity is maximum in first year of therapy. *IAP spatiality series Endocrinology 2nd edition
  54. 54. Devices: Freeze dried – commonest Liquid prep- easy to administer GH THERAPY
  55. 55. Automated pen type
  56. 56. G H THERAPY  Routes of administration: S.c- currently using Intranasal- under trials Timing: 2-3 times/wk  Response to Rx: Max response in 1st year with growth velocity >95th percentile With each increasing year the growth rate tends to decline. If falls <25th percentile: assess compliance before increasing dose.
  57. 57. CRITERIA FOR STOPPING Rx:*  Decision by patient that he/she is tall enough  Growth rate <1 inch/year BA >14YRS in girls & 16yrs in boys. *IAP spatiality series Endocrinology 2nd edition
  58. 58. FOLLOWUP:*  required as there is risk of :primary hypothyroidism / adrenal insuffiency so periodic follow up needed. SIDE EFFECTS:*  Pseudotumour cerebri, hyperglycemia, acute pancreatitis, liver abnormalities, gynaecomastia, *IAP spatiality series Endocrinology 2nd edition
  59. 59. Take Home Message Take height properly along with the height of parents Plot on Growth Charts and find out the target centile Determine the growth velocity by follow up at least after 6 months A systematic approach and simple tests like bone age usually reduce the need & hence cost of further investigations For dynamic stimulation tests refer the child to specialist centres
  60. 60. 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)
  61. 61. Level 1 ( essential investigations): 1.Complete hemogram with ESR 2.BONE AGE 3.Urinalysis ( Microscopy, pH, Osmolality) 4.Stool ( parasites, steatorrhea, occult blood) 5.Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, venous gas, fasting sugar, albumin, transaminases) Level 2 (investigations for short stature) 1.Serum thyroxin, TSH 2.Karyotype to rule out Turner syndrome in girls Above is normal and bone age is delayed proceeds to level 2
  62. 62. • If above investigations are normal and height between -2 to -3→ observe height velocity for 6-12 months • If height < -3 SD → proceeds to level 3 investigations

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