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Approach to short stature


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how to diagnose and manage a short child?

Published in: Health & Medicine
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Approach to short stature

  1. 1. Approach to short stature By Mohammed Ayad Member of the royal college of pediatric and child health
  2. 2. topics 1- definition. 2- measurements. 3- causes. 4- algorithm. 5- history. 6- examination. 7- investigations. 8-common disorders. 9- management. 10- summary.
  3. 3. 1- definition. Short stature is a common problem and should be early detected and managed. About 2% of all children, or more than 1 million children in the US, present with short stature. Boys who are short are more likely to come to medical attention than girls who are short.
  4. 4. Who is the short child? 1-Short stature is defined as height that is two standard deviations below the mean height for age and sex (less than the third percentile). Or 2-more than two standard deviations below the mid-parental height. Or 3-A growth velocity disorder is defined as an abnormally slow growth rate, which may manifest as height deceleration across two major percentile lines on the growth chart.
  5. 5. so, we can not say that this child is short except after taking regular measurement as a single measurement is usually misleading, except if the child is far below the 3rd centile and the mid-parental height is well at the mean level. Regular and accurate measurements are extremely important.
  6. 6. 2-measurements This is the most important part in diagnosis and management of short stature. one study found that 38% of boys and 20% of girls who were referred were of normal height, the referral being due to errors in measurement, errors in plotting on the growth chart, or failure to account for the child's genetic height potential.
  7. 7. 1- how to measure the height? 2- how to plot on growth charts? 3- how to get mid-parental height? 4- how to get expected adult height? 5- other important measurements.
  8. 8. 1-How to measure height It differs according to age;- Up to 2 years…….. Supine position. Legs should be stretched and 90 degree at ankle joint. …… After 2 years…… standing position. Arms and legs are full stretched, head is looking forwards, and no shoes.
  9. 9. 2-How to plot on growth charts? It is vital to know some facts regarding growth charts. 1- each country should have its own charts. 2- there are multiple types of growth charts, so before plotting on the chart you should be sure that you are using the right one. You should check *age. *sex.
  10. 10. 3- there are special types of charts for example for:- Preterm babies. Down syndrome. Turner syndrome. Skeletal dysplasia ( achondroplasia). 4- you should use growth charts frequently to be familiar with this process.
  11. 11. 3- how to get mid-parental height? Mid parental centile is very important because:- *one of the most important causes of short stature is familial short stature. * A child may be considered short even if he is on the normal centiles if he was born to extremely tall parents. For example, if a child was on 9th centile and his mid parental centile was on the 98th , he should be considered short.
  12. 12. How to get mid-parental centile? There are two ways:- A- standard way using old growth charts In a boy: Mid-parental height (cm) = (Father's height + (Mother's height + 13)) divided by 2. In a girl: Mid-parental height (cm) = ((Father's height - 13) + Mother's height) divided by 2.
  13. 13. Examples:- 1-Ahmed is a 3 year old child, his father’s height is 170cm, while his mother’s height is 167cm. So we should use this formula MPH = 170 + ( 167+13) = 350/2= 175cm. Then we should plot this number on the curve to get the mid parental centile. 2- Samah is a 4 year old child, her father and mother’s height are 178 and 170 respectively. MPH = 178-13 + 170= 335/2=167.5cm.
  14. 14. B- the new curves In these curves, it’s very simple to get the MPH. only you can plot father’s and mother’s height on the appropriate part of the chart to get the MPH. This will be explained in the next slide.
  15. 15. What else about MPH
  16. 16. 4- how to get the expected adult height? THE NEW GROWTH CHARTS has a specific scale for this matter, however, if you don’t have these new charts you can still predict the adult height using the MPH, this will be explained in the next two slides.
  17. 17. New growth charts scale
  18. 18. How to use MPH to predict adult height? Simply Most children will reach an adult height within 4 inches (10 centimeters) of this estimation. So if the MPH was 170 cm, the expected height will be 170+/- 10. This means that the child’s height will be from 160 to 10 cm.
  19. 19. 5- other measures Before giving up your measuring tab, you should complete your measurements by these important measures:- 1-Upper and lower segments. 2- Arm span. And it is extremely valuable to have the WEIGHT, and head circumference as this will affect your differential diagnosis.
  20. 20. How to measure upper and lower segments? You should measure the upper segment( US ) then by using the total height you will obtain LS. Upper segment is the sitting height.
  21. 21. Interpretation of US/LS ratio
  22. 22. Disproportionate short statue with short LS:- Achondroplesia Osteogenesis imperfecta. Refractory rickets. Disproportionate short stature with short US:- Spondyloepiphysial dysplasia. Mucopolysaccharidosis.
  23. 23. Arm span
  24. 24. The arm span is the distance between the tips of the left and right middle fingers when a child is standing against a flat wall with arms outstretched as far as possible, creating a 90 degree angle with the torso. In girls and boys, the arm span is shorter than height before puberty and greater than height after midpuberty. Arm span exceeds height by 5.3 cm (2.1 in) in the average adult man and by 1.2 cm (0.5 in) in the average adult woman. Scoliosis and related conditions can lead to shortened vertebral growth and an arm span disproportionate to height.
  25. 25. 3- DD of short stature In fact, there are many causes of short stature, but the most common causes of short stature are:- 1- constitutional short stature. 2- familial short stature. 3- endocrinal causes as hypothyroidism and GH deficiency. 4- chronic diseases as coeliac disease, CF and chronic infection. 5- maternal deprivation.
  26. 26. 4- algorithm There are many great algorithms to diagnose a child with short stature, but I think the 2 algorithms which I have chosen simple and effective. By simple steps and accurate assessment you can reach a diagnosis.
  27. 27. 5- history A- perinatal history Infections, placental insufficiency, poor nutrition, and medication adverse effects can impair fetal growth and development. Perinatal history may point to specific pathologies, such as hypopituitarism or hypothyroidism; birth measurements reflect intrauterine conditions; duration of gestation determines pre- or post maturity.
  28. 28. B- nutritional history Malnutrition is the most common cause of poor growth worldwide; thus, a detailed history of quality and quantity of nutrition is critical in the evaluation of abnormal growth; a 24-hour food recall or three-day food diary is important in the evaluation. Ask about nutrition, including problems with feeding, appetite, food science, special diets or any other indication of inadequate nutrition.
  29. 29. C- family history Father's height and age during pubertal growth spurt; mother's height and age at menarche; heights of siblings, grandparents, uncles, and aunts; medical conditions of family members. The heights of parents determine the heights of their children; most children also follow their parents' pubertal tempos; certain genetic disorders can lead to short or tall stature.
  30. 30. D- history of chronic diseases This step is very important through system review to exclude chronic infections and chronic illnesses. *GIT Chronic diarrhea, abdominal pain and git bleeding…… IBD. Diarrhea, weight loss and abdominal distention….. Coeliac disease.
  31. 31. *Respiratory Recurrent pneumonia and adenoid….. CF. Long history of uncontrolled asthma. Prolonged use of steroids in asthmatic children. *Renal Polyuria and edema…… CRF. Polyuria, rickets…..RTA. Recurrent UTI….. CRF. *others Poor academic performance…. Hypothyroidism. Recurrent infections and poor wound healing….. Immunodeficiency.
  32. 32. E- social history Growth is often impaired in refugees and in children emerging from foster care or certain international adoption settings. The growth pattern with adequate nutrition in a loving environment over time is critical to distinguish pathologic GF from normal variant short stature in such patients.
  33. 33. 6- examination There is a unique examination technique which can detect many disorders. This approach consists of A- measurements ( discussed before ) and maneuvers. B- General examination.
  34. 34. A- maneuvers the aim is to detect signs of rare syndromes and disorders. 1- hands and feet together This will show asymmetry of Russell Silver syndrome. Put both arms together to show asymmetry.
  35. 35. 2-arms out straight To detect cubitus valgus of Turner and Noonan.
  36. 36. B- general examination 1- characteristic facies Achondroplasia Turner syndrome Noonan syndrome Russell silver syndrome. Mucpolysaccharidosis.
  37. 37. 2- hands and feet examination Short 4th metacarpal ……. Turner. Trident hand……. achondroplasia. Wide carrying angle……. Turner. Asymmetry……. Russell silver syndrome.
  38. 38. 3- head and neck Short webbed neck…. Turner and Noonan. Low posterior hair line…. Turner. Low set ears…… Noonan. Coarse features….. Mucopolysaccharidosis. Blue sclera…… osteogenesis imperfecta.
  39. 39. 4- chest and abdomen Rosary beads….. Rickets. Wide spaced nipple….. Turner. Distended abdomen…. Coeliac. Hepatosplenomegaly…… muopolysaccharidosis, thalassemia. Stria……. Cushing syndrome.
  40. 40. 5- tanner staging It is very important here because:- Delayed puberty in Constitutional short stature. Turner syndrome. Chronic illnesses.
  41. 41. 6- lower limbs Bow legs and other signs of rickets
  42. 42. 7- back examination This can demonstrate Scoliosis. Kyphosis. Kyphoscoliosis.
  43. 43. 7- investigations In fact, most cases of short stature do not need to be investigated at the beginning. Close follow up is the best option with good nutrition and psychological support. However, there are some indications of urgent work up, these are:- 1- dysmorphic child. 2- disproportionate short stature. 3- signs of pathological causes.
  44. 44. How to start short stature investigations? Usually investigations are done according to clinical assessment. There is a great algorithm which illustrates how and which one to start with. After this I will illustrate the most common investigations.
  45. 45. 1- bone age Perform anteroposterior radiography of left hand and wrist to assess bone age. Although the most common usage of bone age assessment is to differentiate familial from constitutional short stature, there are other benefits.
  46. 46. BA = bone age. CA = chronological age.
  47. 47. 2- CBC. This simple test may give clues to some disorders. Microcytic hypochromic anemia…… coeliac disease and IBD. Normocytic anemia…… Chronic diseases, thalassemia and chronic renal failure.
  48. 48. 3- LFTs and RFTs. Another simple investigations to role out chronic kidney disease and other chronic liver infections. Elevated serum bilirubin may be seen with hemolytic anemias as thalassemia.
  49. 49. 4- hormonal assay. These tests are needed when endocrinal disorders are greatly suspected. The most common endocrinal causes are:- Hypothyroidism: TSH, free T4,T3. GH deficiency:--IGF-I, IGF-binding protein 3 and GH stimulation tests. Cushing syndrome:- midnight serum cortisol, salivary cortisol, 24-hour urinary free cortisol estimations and dexamethasone suppression test.
  50. 50. 5- coeliac screen.
  51. 51. 6- karyotyping. This test is specially for diagnosis of Turner syndrome and to differentiate Turner from Noonan syndrome.
  52. 52. 8- common disorders. In this section we will discuss in brief the most common causes of short stature and the common differential diagnosis. Those are Familial vs constitutional short stature. Turner vs Noonan.
  53. 53. Familial vs constitutional short stature.
  54. 54. Turner syndrome
  55. 55. Noonan syndrome
  56. 56. 9- management Management of short stature is mainly management of the cause, however, there are general rules:- 1- follow up. 2- good balanced nutrition. 3-good psychological support.
  57. 57. Indication of GH treatment in short child 1- GH deficiency. 2- turner syndrome. 3- Russell silver syndrome. 4- CKD.
  58. 58. summary Short stature is a common problem in pediatric practice. Measurements are the most important step in assessment and management. Growth charts should be used properly. Regular follow up is the main initial management step. Familial and constitutional short stature are the most common causes.
  59. 59. Turner syndrome should be suspected in every short girl. GH treatment is used in few specific cases.
  60. 60. Best Of Luck