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Basic approach on short stature in children

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basic approach on short stature in children

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Basic approach on short stature in children

  1. 1. short stature
  2. 2. • By the end of this lecture, we will be able to: • Define short stature. • Mention types of short stature. • Mention the principles of diagnosis. • Identify the causes of short stature. • Outlines about Managements. • I may use Kurdish language some times for clarification and discussion ???
  3. 3. Growth • Growth refers to an increase in physical size of the whole body or any of its parts. • It is simply a quantitative change in the child’s body. • It can be measured in Kg, pounds, meters, inches, ….. etc
  4. 4. Development • Development refers to a progressive increase in skill and capacity of function. • It is a qualitative change in the child’s functioning. • It can be measured through observation.
  5. 5. Factors affecting growth • Birth size • Nutrition • General well being • Psycosocial factors • Endocrinal factors
  6. 6. Normal growth • Length at birth :50 cm • Length at 1 yr : 75 cm • Height at 4 yr : height at birth X 2 (100 cm ) • Height at 13 yr : height at birth X 3 • From 2-12 yr : age (yr ) X 6 + 77
  7. 7. Is she short? • Example: • 5 Y – girl
  8. 8. Assessment of a child with short stature • Accurate height measurement& height velocity • Height plotted on appropriate growth chart.
  9. 9. Normal Measuring • Supine length < 2 y of age • For measurement of supine length it is best to use a firm box with an inflexible board against which the head lies, with a movable footboard on which the feet are placed. • Erect height > 2 y • The head is held in a horizontal plane • Upward pressure is applied to the mastoid processes in order to encourage the child to stand up straight.
  10. 10. Is she short? • Example: • 5 Y – girl – • Ht=105 cm • Wt=17 Kg 50
  11. 11. Is she short? • Example: • 3 Y – girl – • Ht=95 cm • Wt=10 Kg 50 3rd
  12. 12. Short Stature Vs F.T.T • short stature should not be confused with failure to thrive. • Failure to thrive is associated with greater impairment in weight gain than linear growth (resulting in a reduced weight-for-height ratio). • Although failure to thrive may be associated with short stature or slow growth velocity, it primarily represents an inability to gain weight appropriately and only secondarily an impairment in linear growth
  13. 13. • Short child: Any child whose height falls below the 3rd centile for his/her community. • Failure of physical growth • 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).
  14. 14. Is he short? • Example: • 3Y – boy – • Ht=85 cm • Wt=14 Kg 3rd
  15. 15. Short child • FIVE GOLDEN POINTS • 1- Accurate & Serial measures . • 2- Mid Parental Height (MPH). • 3- Height age. • 4- Bone Age. • 5- appropriates Investigations.
  16. 16. Important definitions • Chronological age – Actual age of the child. • Height age – it’s the age at which the height of the child is at 50th centile. • Bone age - is an indicator of skeletal maturation. • Target MPH: F+M/2 +6.5 for boys and -6.5 for girls. • Then plot the result on Growth Chart at Age 20 to form Family chart ±10 to form centile
  17. 17. Guidelines for referral  UK guidelines, depend on single measurement on school entrance, at 5years of age , no data on sensitivity and specificity
  18. 18. Body Proportions • Lower segment (LS): Measure from the symphysis pubis to the floor. • Upper segment (US): Subtract the LS from the height. • U/L birth = 1.7 • U/L 3years = 1.3 • U/L > 7 years = 1 • Proportionate (ie, involves both the trunk and the lower extremities) or • Disproportionate (ie, involves one more than the other).
  19. 19. • Disproportionate (ie, involves one more than the other). • U/L > Increase ratio ---------- short lower limb. • (e.g. Achondroplasia, Skeletal dysplasia) • U/L < Decrease ratio : • Short trunk (Scoliosis, MPS) • Short neck (Turner Syndrome).
  20. 20. Mid parental height (MPH) • Comparison with child’s own genetic potentia • Mid parental height for boys • MPH = mother's height + father's height /2 + 6.5cm • Mid parental height for girls • MPH = mother's height + father's height /2 – 6.5cm • Then plot the result on Growth Chart at Age 20 to form Family chart ±10
  21. 21. Family Chart • Example: 3 Y – girl – • Ht=85 cm --Wt=10 Kg • Father Ht= 165 cm • Mother Ht= 155 cm • MPH= 160-6.5= • 153.5 • Plot on age 20 • 153.5 ±10 • 143.5 – 163.5 3rd MPH= 153.5±10
  22. 22. Height age • Height of a person at the 50th percentile for their age.
  23. 23. Height age • Examples: • Girl- Age = 5 y • Ht= 95 cm • Height age= ?
  24. 24. • Example: 10 Y male,HT=115 • HT< 3RD • HA= 6 Y
  25. 25. • Bone age estimated from an x-ray of the left wrist and hand should be undertaken as part of the routine evaluation of children with growth failure over 1 year of age. • It is important investigation in evaluation of patient with short stature and diagnosis of GHD in which it is usually delayed.
  26. 26. the Greulich-Pyle Atlas method (GP method) in which a left-hand wrist radiograph is compared by means of a sequence of radiographs grouped in the atlas according to age and gender.
  27. 27. Is she short? • Example: 3 Y – girl – • Ht=85 cm --Wt=10 Kg • Father Ht= 165 cm • Mother Ht= 155 cm • MPH= 160-6.5= • 153.5 • Plot on age 20 • 153.5 ±10 • 143.5 – 163.5 • Bone Age = normal 50th 3rd MPH= 153.5±10 Familial short stature
  28. 28. Is she short? • Example: 5.5 Y – girl • Ht= 98 cm --Wt=13 Kg • Father Ht= 175 cm • Mother Ht= 165 cm • MPH= 170-6.5= • 163.5 ±10 • HT Age=3.5 years • Bone Age=3.5 years 50th 3rd MPH= 163.5 ±10 Constitutional short stature
  29. 29. Features Familial Short Stature Constitutional Delay Parent’s Stature Small one or both Average Parent’s Puberty Usual timing Delayed Birth Length Normal Normal Growth Normal Normal to slow Growth Puberty Normal Slow Bone Age Normal Delayed Timing of Puberty Normal Delayed Puberty Growth Rate Low range of Normal Diminished Adult Height Short Normal
  30. 30. Is she short? • Example: 5 Y – girl – • Ht= 98 cm --Wt=15 Kg • Father Ht= 175 cm • Mother Ht= 165 cm • MPH= 170-6.5= • 163.5 ±10 • HT Age=3.5 years • Bone Age=1 year 50th 3rd MPH= 163.5 ±10 Pathological short stature
  31. 31. Investigations Level 1 ( essential investigations): • Complete hemogram with ESR • BONE AGE • Urinalysis ( Microscopy, pH, Osmolality) • Stool ( parasites, steatorrhea, occult blood) • Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, fasting sugar, albumin, transaminases)
  32. 32. Level 2: • Serum thyroxine, TSH • Karyotype to rule out Turner syndrome in girls • 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
  33. 33. • GH secretion occurs in discrete irregular pulses • Between the pulses, circulating GH falls to levels that are undetectable with current assays • Greatest GH levels at night, generally correlating with the onset of sleep • GH secretion is influenced by other physiological stimuli such as nutrition and exercise
  34. 34. • Random sampling of serum GH is insufficient to diagnose GH deficiency; GH stimulation tests are required • A limited number of provocative agents should be used after an overnight fast in a well standardized protocol. • Insulin tolerance test (ITT) • Glucagon test (100 microgrammes/kg BW IM(max.1 mg) • L-dopa test • Arginine test(0.5g/kg BW , slow IV infusion (max,30g) , • Clonidine test (0.1- 0.15 mg/kg BW orally).
  35. 35. •In healthy volunteers peak GH levels are 10 ng/ml (20 mU/ml). •If peak GH level of 10 ng/ml (20 mU/ml) is detected , it exclude classical GHD •In a classical GHD case a GH peak is not detected or GH peak is less than 3 ng/ml (6 mU/ml) in all these tests. •In partial GHD cases GH peak of 8-10 ng/ml (16-20 mU/ml) may be seen.
  36. 36. • IGFBP-3 and IGF-1 serum levels represent a stable and integrated measurement of GH production and tissue effects • The combination of IGF-1 and IGFBP-3 measurements appears superior to determining either analyte alone in the diagnosis of growth hormone (GH) related disorders
  37. 37. • 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----- • If GH also low then GH def, • if GH normal or high then GH resistance ( Primary IGF-1 def), (Laron syndrome).
  38. 38. Approach to short stature (now in Heevi Hospital) 1- Height (CDC) ↓ 3rd centile 2- Family Chart: HT ↓ MPH 3- Bone age evaluation by greulich and pyle method. 4- BA < HA<CA (Pathological Short Stature) 5- Investigations: level 1 general then Level 2 TFT 6- Provocative tests (GH stimulation tests)&IGF Familial Short Stature Constitutional Short Stature Pathological Short Stature ↓3rd Centile ↓3rd Centile ↓3rd Centile ↔ MPH ↓ MPH ↓ MPH BA = CA Normal BA = Height Age < CA BA < HA<CA
  39. 39. • Counselling of parents ( for physiological causes) • Dietary advice ( Undernutrition, Celiac disease,) • GH s/c injections . • Limb lengthening procedures ( skeletal dysplasias ) • Levothyroxine ( In Hypothyroidism) Management
  40. 40. • Growth hormone deficiency .(The prevalence between 1 in 3500 and 1 in 4000 children) • Turner syndrome. • Prader-Willi syndrome • Chronic renal insufficiency (pretransplantation) • Children born small for gestational age SGA: Growth failure at 4 years or older in those born small for gestational age. (Approximately 10% of SGA do not reach the normal height range)
  41. 41. The dosage of somatropin should be tailored to the needs of each individual child& varies according to the condition being treated: • 23–39 microgram/kg daily for growth hormone deficiency. • 45–50 microgram/kg daily for Turner syndrome and CRI. • 35 microgram/kg daily for growth disturbance in children born small for gestational age. • Somatropin is self-administered or given to the child by an adult, at home, usually as a subcutaneous injection, 6–7 times a week.The maximum recommended daily dose should not be exceeded.
  42. 42. • Gains in final height for children treated with somatropin compared with untreated children ranged from approximately 3 to 11 cm • for growth hormone deficiency 8–11 cm. • Turner syndrome 5 cm. • Chronic renal insufficiency 3–9 cm. • Long-term continuous GH treatment in short children born SGA without signs of persistent catch-up growth leads to a normalization of adult height.
  43. 43. Treatment with somatropin should be discontinued if any of the following apply: • final height is attained. • Decision by patient that he/she is tall enough. • growth velocity increases less than 50% from baseline in the first year of treatment • final height is approached and growth velocity is less than 2 cm total growth in 1 year. • BA >14years in girls & 16years in boys. • there are insurmountable problems with adherence
  44. 44.  required as there is risk of :primary hypo thyroidism/adrenal insuffiency so periodic follow up needed. Pseudotumour cerebri, hyperglycemia, acute pancreatitis, liver abnormalities, gynaecomastia,
  45. 45. Short Stature 1) Prenatal Causes: i) Intra-uterine Growth Restriction ii) Intra-uterine Infections iii) Genetic Disorders (Chromosomal & Metabolic Disorders) Proportionate Short Stature Normal Variants * Familial short stature * Constitutional Delay Pathological Disproportionate Short Stature 2) Postnatal Causes: i) Undernutrition ii) Chronic Systemic Illness -CVD: CHD,. -RSD: Asthma. - Renal: RTA, CRF. - GI T: Malabsorption. - Chronic Severe Infections -Hematological:Thalassemia. -iii) Psychosocial Short Stature . iv ) Endocrine Causes: -Growth Hormone Deficiency. -Hypothyroidism 1- With Short Limbs: Achondroplasia 2- With Short Trunk: Mucopolysacchari dsis
  46. 46. THANKS FOR YOUR ATTENTION

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