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Short stature in children 2020
This document provides guidance on evaluating and managing short stature in children. It discusses evaluating a short child by taking a history including birth details, illnesses, nutrition, and parental heights. Physical examination involves measuring height, weight, body proportions, and examining parents. Growth charts are used to assess if a child's height is below standard deviations. Potential causes of short stature discussed include familial, constitutional growth delay, chronic diseases, psychosocial, chromosomal, genetic syndromes, and endocrine disorders. Initial investigations include blood tests and bone age x-ray. Advanced tests may include skeletal survey, karyotype, growth hormone stimulation. Management depends on the identified cause and may include counseling, disease treatment, hormone therapy.
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Short stature in children 2020
- 1. A Practical Approachto Short Stature in Children Prof. Imran Iqbal Prof of Paediatrics (2003-2018) Prof of Pediatrics Emeritus, CHICH Multan, Pakistan
- 2. In the nameof Our Creator Allah, the most Gracious, the most Merciful
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- 5. Case scenario • A12 year old child presents with shortness • Age 12 yr • Ht 129 cm • Wt 19 kg How will you evaluate this child ?
- 6. Evaluation of theShort Child - History • Birth – length, weight • Diseases - Symptoms, Diagnosis • Nutritional intake • Parents, family stature
- 7. Evaluation of theShort Child Examination • Height • Weight • Body proportions (trunk, limbs) • Complete Physical Exam • Parents’ Height measurements
- 8. How to measureHeight • Without footwear • Heels & back touching the wall • Looking straight ahead • A right angled mark touches the head • Record to last 0.1 cm
- 9. Growth Charts • WHO– www.who.int • CDC, USA – www.cdc.gov • Growth Charts are made on the basis of: Percentiles Standard Deviations
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- 14. Growth Chart –single measurement
- 15. Growth Chart –serial measurements
- 16. Is this ChildReally Short ? • < - 2 SD • Shorter than two standard deviations below the mean (2.5 percentile) for age and sex • consider Height of Parents • analysis of the child’s height in the context of the expected genetic potential
- 17. Short Child • <- 2 SD • Shorter than two standard deviations below the mean (2.5 percentile) for age and sex • analysis of the child’s height in the context of the expected genetic potential (in relation to Height of Parents)
- 18. Significantly Short Child •< - 3 SD • Shorter than three standard deviations below the mean (0.4 percentile) for age and sex • Needs urgent investigations
- 19. Significantly Short Child •< - 3 SD • Shorter than three standard deviations below the mean (0.4 percentile) for age and sex • Needs urgent investigations
- 20. Causes of ShortStature • Familial Short Stature • Constitutional Growth Delay • Chronic Diseases • Psychosocial dwarfism • Chromosomal disorders • Genetic diseases / Syndromes • Endocrine Disorders
- 21. Causes of ShortStature • Familial Short Stature (parents Ht less than average) • Constitutional Growth Delay (growth picks up near puberty) • Chronic Diseases (which last years) • Psychosocial dwarfism (parental loss or separation) • Chromosomal disorders (Down Syndrome & others) • Genetic diseases / Syndromes (genetic disorders) • Endocrine Disorders (Thyroid Hormones or Growth Hormone deficiency)
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- 23. Mid Parental Heightand Range • Mid Parental Height is the Average Height of the Parents and the range which the child is likely to attain on his Genetic basis • Midparental Height in boys:(MH+FH+12)/2 • Midparental Height in Girls: (MH+FH-12)/2 • Midparentantal Height range is 10 cm above and below the Midparental Height
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- 29. Common Diseases causingShort Stature • Repeated Infections • Thallasemia • Congenital Cyanotic Heart Disease • Chronic Liver disease • Chronic kidney disease • Celiac disease • Diabetes mellitus • Glycogen storage disease
- 30. Repeated / ChronicTonsillitis
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- 32. Congenital Cyanotic HeartDisease
- 33. Chronic Liver Disease •Abdominal distention • Ascites • Muscle atrophy
- 34. Celiac disease • Glutenenteropathy • Chronic diarrhea • Abdominal distention • Muscle atrophy
- 35. Glycogen Storage Disease •Short stature • Hepatomgaly • Hypoglycemia • Doll face • Glucose 6 phosphatase enzyme deficiency
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- 37. Down syndrome (Trisomy21) • Short height • Delayed development • Intellectual handicap • Hypotonia • Upward outward slanting eyes • Open mouth • Social behavior
- 38. Turner syndrome • 45XO • 1 / 2500 births • Females • Webbed neck • Short stature • Amenorrhoea
- 39. Turner syndrome • 45XO • 1 / 2500 births • Females • Wide nipples • Edema of hands • Amenorrhoea
- 40. Genetic diseases /Syndromes
- 41. Syndrome A syndrome isa set of medical signs and symptoms that are correlated with each other and, often, with a specific disease.
- 42. Common DYSMORPHIC clinicalfeatures seen in Syndromes • Microcephaly • Hypertelorism, slanting eyes • Depressed bridge of nose • Malformed, low set ears • Small mandible, Short neck • Cardiac malformations • Long, short limbs • Polydactyly, palmer creases • Ambiguus genitalia • Undescended testes
- 43. Noonan Syndrome • Shortstature • Antimongoloid slanting eyes • Low IQ
- 44. Seckel dwarf (age16 years) • Failure of growth • Very very short • Beaked nose • Thin body
- 45. Achondroplasia • Skeletal dysplasia •Very short height • Large head with frontal bossing • Short proximal segments of limbs (Rhizomelic shortening)
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- 47. Endocrine Disorders • Delayedgrowth after 2 years of age • Child significantly short child from early years • Bone age less than chronological age
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- 49. Growth Hormone Deficiency •Significantly short from birth • Round face • Prominent subcutaneous fat • Delayed bone age
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- 51. Causes of ShortStature • Familial Short Stature • Constitutional Growth Delay • Chronic Diseases • Psychosocial dwarfism • Chromosomal disorders • Genetic diseases / Syndromes • Endocrine Disorders
- 52. Initial Investigations • CBC,ESR, CRP • Urine Examination • LFT, RFT • T3, T4, TSH • Anti Transglutaminase IgA • Bone age (Xray wrist) • Height of Mother and Father • Height Velocity (increase in Ht in one year)
- 53. Bone Age inCauses of Short Stature • Familial Short Stature Bone age - N • Constitutional Growth Delay Bone age - D • Chronic Diseases Bone age - D • Psychosocial dwarfism Bone age - D • Chromosomal disorders Bone age - N • Genetic diseases/Syndrome Bone age - N • Endocrine Disorders Bone age - D
- 54. Advanced Investigations (As neededaccording to presentation) • Skeletal survey • Karyotype • Growth Hormone (insulin stimulation test) • IGF – 1 • Others as needed
- 55. Management of ShortChild
- 56. Management of ShortStature Child • Familial Short Stature = Counseling • Constitutional Growth Delay= Counseling / androgens • Chronic Diseases = Optimal Disease Management • Psychosocial dwarfism = Psycological support • Chromosomal disorders = Counseling • Genetic diseases / Syndromes = Counseling • Endocrine Disorders = Hormone therapy
- 57. Take Home Message •Measure Child Height • Plot on Growth Charts • Find Height Percentile • Measure Parents Height • Calculate Mid-Parental Height • Find whether Child Ht corresponds to parents • Initial investigations and further if needed • Patient counselling and management according to cause
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