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Short Stature.pptx

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Short Stature.pptx

  1. 1. Short Stature By:- Jwan Ali Ahmed AlSofi
  2. 2. GROWTH •Normal growth is dependant on:- 1. Endocrine influences 2. Environmental influences 3. Nutritional influences 4. Genetic influences. •Importance of normal growth:- ▫ A normal linear growth pattern is good evidence of overall health and can be considered a bioassay for the well-being of the whole child. ▫ Stature itself influences psychologic, social, and, potentially, economic well-being.  Parental concern about the psychosocial consequences of abnormal stature often causes a family to seek medical
  3. 3. Growth Hormone Physiology:- • Is a protein. • Secreted by the pituitary in a pulsatile fashion, • stimulated by hypothalamic GH-releasing hormone (GHRH), • inhibited by somatotropin release–inhibiting factor (SRIF) or somatostatin. • GH secretion is enhanced by 1. α-adrenergic stimulation, 2. hypoglycemia, 3. stress, 4. starvation, 5. Exercise 6. early stages of sleep 7. GH-releasing peptides (GHRPs) 8. sex steroids 9. Thyroxine 10. glucocorticoids 11. Ghrelin 12. clonidine. • It is suppressed by 1. β-adrenergic stimulation 2. hyperglycemia.
  4. 4. Growth Physiology:- • Growth Hormone has roles in development and metabolism, but its most prominent effect is on a child's height. • Growth Hormone is responsible for the stimulation of Insulin-like Growth Factor-1 (IGF) production in the liver. • IGF-1 is closely associated with post-natal growth, as it stimulates physiological changes and growth effects on the cells it binds to. • Alternations in the production of Growth Hormone and it’s product, Insulin-like Growth Factor-1, are a common cause of Short Stature in the population.
  5. 5. Growth Hormone functions:- Insulin-like growth factor 1 (IGF-1) – mediated functions • Produce anabolic actions Non – IGF-1 – mediated functions • Lipolysis • amino acid transport in the heart • production of specific hepatic proteins.
  6. 6. Puberty Female:- • Age:- 8-10 yrs • The first sign in females is breast development; Male:- • Age:- 9-11 yrs • The first sign in males it is testicular enlargement.
  7. 7. Measuring Stature:- • The head is held with the external auricular meatus and outer canthus of the eye in a horizontal plane. • Upward pressure is applied to the mastoid processes in order to encourage the child to stand up straight.
  8. 8. Short Child • Short Stature:- Any child whose height falls 1. Below the 3rd centile for his/her community. 2. Two standard deviations (SD) below the mean for children of that sex and chronologic age. • Growth Failure:- denotes a slow growth rate (measured as height velocity) regardless of stature. • A slow growth rate leads to short stature, but a disease process is detected sooner if the decreased growth rate is noted before the stature becomes short. However, occasionally a child whose height is above 3rd centile considered as short stature in relation to the family patterns.
  9. 9. Growth Velocity:- • Growth Velocity is the Growth Rate of a child. • Growth Velocity may be abnormal long before a child’s height falls below these values. • This Growth Failure can be identified from the child’s height falling across centile lines plotted on a height velocity chart. • Plotted on a growth chart, growth failure appears as a curve that crosses percentiles downward and is associated with a height velocity below the 5th percentile of height velocity for age • This allows growth failure to be identified earlier, even though the child’s height is still above the 2nd centile. • Child should be checked every visit, every year or every 6 months and by plotting on his chart.
  10. 10. A Height Velocity persistently below the 25th centile is Abnormal and that child will eventually become short.
  11. 11. Classification of Short Stature
  12. 12. Normal Variant Short Stature Familial Short Stature Constitutional Growth Delay (Short Stature) Pathological Short Stature Disproportionate Short Stature Severe Hypothyroidism Rickets Skeletal Dysplasia Proportionate Short Stature Pre-Natal proportionate Short Stature IUGR Placental Diseases Infections Teratogens Dysmorphism Chromosomal Disorders Post-Natal proportionate Short Stature Malnutrition Chronic Systemic Diseases Causes of Short Stature
  13. 13. There are three colors; green and blue are both normal. While the red one is pathological one.
  14. 14. Steps in approaching a child with short stature 1. Take the chronological age 2. Plot the height on the chart – height age • Height-for-age is an index used to assess how a child's height compares to the expected height of a healthy child of the same age and sex based on theWHO 2006 Child Growth Standards. 3. Plot the height velocity – 4. US/LS Ratio 5. Determine the bone age • X-rays of the left hand and wrist to determine bone age 6. Puberty growth 7. Take a systemic history 8. Family history 9. Perform a systemic examination 10. Do screening tests
  15. 15. 1. Familiar Short Stature 2. Constitutional Short Stature
  16. 16. 1. Familial Short Stature • Height at or below 3rd centile • Annual Growth Rate is normal • No systemic or endocrine disease • Pubertal Growth Spurt at normal age • Bone Age equal to Chronological Age • Ancestors relatively short • Treatment is not more than explanation and reassurance.
  17. 17. 2. Constitutional Short Stature • It is a variation of the normal timing of puberty rather than an abnormal condition. • Most common in Male. • These children have delayed puberty, which is often familial, usually having occurred in the parent of the same sex • The length and the weight of the affected child are normal at birth and for the 1st 4-12 months of age, then the growth decelerates to below 3rd centile. • By 2-3 years of age, the growth resumes at normal rate of 5 cm/year or more. (Eventually the target height will be reached) • An affected child will have delayed sexual changes compared with his peers • Growth Hormone is within normal limit. • Growth velocity is normal. • The legs will be long in comparison to the back. • On X-Ray, Bone Age consistent with height age but not with chronological age (so Delayed Bone Age for chronological age) • Rx:- 1. Reassurance. 2. The onset of puberty can be induced with androgens or oestrogens.
  18. 18. Feature Familial Short Stature Constitutional Short Stature 1) Sex Both equally affected More common in boys 2) Length at Birth Normal Normal (starts falling <5th centile in 1st 3yrs of life) 3) Family History Of short stature Of delayed puberty 4) Parents Stature Short (one or both) Average 5) Height Velocity Normal Normal 6) Puberty Normal Delayed 7) Bone Age and Chronological Age CA > Height Age CA = BA BA > Height Age CA > Height Age CA > BA BA = Height Age 8) Height prognosis Poor Good 9) Final Height Short, but normal for target height Normal
  19. 19. 2. Disproportionate Short Stature (abnormal U/L ratio):- US>LS (short limbs) – • Rickets • Vitamin D deficiency • Achondroplasia • Short Limb • Dwarfism • AD • +/- Hydrocephalus • Normal IQ • Normal Life span. • Hypothyroidism US<LS (short trunk) – Storage diseases • Mucopolysaccharidosis (MPS)
  20. 20. 2. Proportionate Short Stature Pre-Natal 1. Intra-Uterine Growth Restriction 2. Extreme Pre-Maturity 3. Patau Syndrome ▫ Trisomy 13, presents with small hand, cleft lip, clenched hands, and undescended abnormal testis. 4. Edward Syndrome ▫ Trisomy 18, presents with small mouth and jaw, short neck, short prominent sternum, flexed big toe. 5. Down Syndrome 6. Turner Syndrome ▫ Presents with broad chest and webbed neck.
  21. 21. Post-Natal A. Diseases of a Major Organ or Metabolism 1. Asthma 2. Renal disease 3. Congenital heart disease 4. Diabetes mellitus 5. Chronic anemia 6. Mental retardation
  22. 22. B. Nutritional Disorders 1. Kwashiorkor  Edematous Malnutrition  Protein Deficiency 2. Marasmus  All nutrients are deficient  Calorie Deficiency 3. Inadequate Intake a. Renal Disease b. Infections c. Psychological Disturbances, such as anorexia nervosa and depression. 4. Chronic Intestinal Disease a. Cystic Fibrosis b. Celiac Disease a. Celiac disease should be considered in any child with chronic abdominal complaints, short stature, poor weight gain, or delayed puberty. c. Crohn Disease
  23. 23. C. Endocrinological Disorders 1. Primary Hypothyroidism (congenital and acquired (autoimmune thyroiditis)) 2. Corticosteroid (Glucocorticoids) Excess  Iatrogenic Cushing Syndrome: due to steroid therapy.  Non-Iatrogenic Cushing Syndrome: may be due to pituitary or adrenal pathology. 3. Hypopituitarism 4. Growth Hormone Resistant  Laron Syndrome –dwarfism : defective growth hormone receptors resulting in growth hormone insensitivity. Patients with Laron have high growth hormone levels, but low levels of it’s active product, Insulin-like Growth Facto 1 (IGF-1). 5. Idiopathic Growth Hormone Deficiency
  24. 24. Children with Nutritional/chronic illness are usually short and underweight: i.e. their weight is on the same or a lower centile than their height. Endocrine disorders are associated with children being relatively over-weight, i.e. their weight on a higher centile than their height.
  25. 25. Congenital Hypothyroidisms • Which may be sporadic for familial goitrous or non-goitrous. • The hormonal deficiency is severe and signs with symptoms developed in early weeks of life, so it is diagnosed soon after birth. • Due to the early diagnosis and as a result, the early treatment, it will NOT result in abnormal growth.
  26. 26. Clinical Features include: 1. Prolonged Neonatal Jaundice 2. Feeding Difficulty 3. Decrease Activity 4. Muscular Hypotonia 5. Large Posterior Fontanel 6. Large Tongue 7. Cold Dry Skin 8. Hoarse Cry 9. Constipation 10. Umbilical Hernia
  27. 27. Investigations: • Screening Test of… Low T4 , High TSH correlate with congenital hypothyroidism. • Retardation of Bone Age can be seen by X-Ray.
  28. 28. Classic congenital or Idiopathic GH deficiency • Idiopathic GH deficiency, of unidentified specific etiology, is the most common cause of both congenital and acquired GH deficiency. ▫ Classic GH deficiency refers to very reduced to absent secretion of GH; numerous short children may have intermediate forms of decreased GH secretion. • Less often, GH deficiency is caused by anatomic defects of the pituitary gland, such as pituitary aplasia or other midline defects (such as sept0-optic dysplasia), with variable degrees of deficiency of other pituitary functions. • Hereditary forms of GH deficiency that affect pituitary differentiation are the result of heterogeneous defects of the gene for GH, GRF, or GH receptor. • Acquired GH deficiency causing late-onset growth failure suggests the possibility of a tumor of the hypothalamus or pituitary causing compression of the area
  29. 29. Diagnosis of (GH) Deficiency Clinical Findings • Neonatal Period 1. Hypoglycemia 2. Cholestatic Jaundice 3. Micropenis • Infancy 1. Congenital Mid-Facial Defect – dysraphism – (cleft lip, cleft palate, single incisor, encephalocele, visual impairment) • Childhood 1. Truncal Obesity 2. elevated weight:height ratio 3. Typical Facies: small mid face, frontal bossing, high pitched voice(immature larynx)
  30. 30. Diagnosis of Growth Hormone Deficiency 1. Significant Short Stature 2. Height Velocity for Age 3. Delayed Bone Age Growth Hormone Screening 1. Provocation GH test 2. IGF1 (insulin like growth factor 1) 3. IGF BP3 (binding protein 3)
  31. 31. to Short Stature
  32. 32. Diagnostic Evaluation of Short Stature 1. History 2. Physical Examination 3. Laboratory Tests 4. Radiological Tests
  33. 33. History-Taking 1. Pregnancy History: a. Intra-Uterine Growth Restrictions b. Asphyxia or other birth trauma 2. General History: a. Chronic Illness b. Psychosocial Assessments 3. Growth History: a. Weight b. Height c. Growth Velocity 4. Family History a. Parental Stature b. Mid-Parental Height c. Parental Pubertal Patterns
  34. 34. Physical Examination 1. Height and Weight accurately measured and plotted 2. Head circumference recorded 3. Body proportion assessed ▫ Upper:Lower segment ratio 4. Pubertal status 5. Syndrome – associated features
  35. 35. Diagnostic Tests Initial Screening 1. CBP, ESR 2. Electrolyte 3. RFT 4. Anti-endomesial Ab 5. TFT 6. BS 7. Bone age Further Test 1. GH tests 2. Karyotype 3. MRI of brain Radiological Findings 1. Delayed Bone age 2. MRI of Brain a. Absent or Hypoplastic stalk b. Absent or Hypoplastic pituitary
  36. 36. 57
  37. 37. 58
  38. 38. 60 • X-rays of the left hand and wrist to determine bone age. • This technique allows assessment of skeletal maturation from the time of appearance of the epiphyseal centres, using a standardized rating system. • The child’s height can be compared with skeletal maturation and an adult height prediction made. • The ages shown are the bone age of each X-ray.
  39. 39. Treatment of Short Stature 1. Treat Underlying Condition when possible like: a. Replace thyroxine , Vitamin D and Phosphate. b. Treat undernutrition. c. Specific treatments for a known cause. 2. Growth Hormone Therapy 3. Insulin-like Growth Factor-1 4. Aromatase Inhibitors (letrozole and anastrozole) 5. GnRH 6. Testosterone
  40. 40. Growth Hormone Therapy Dose: 0.18-0.30 mg/kg/week Subcutaneous Injection Indications for Growth Hormone Therapy: 1. Childhood GH deficiency 2. Adult with GH deficiency 3. Intra-Uterine Growth Restriction 4. Growth failure associated with chronic renal disease before transplantation 5. Prader-Willi syndrome, 6. SHOX gene abnormality, 7. Turner syndrome 8. Noonan syndrome.
  41. 41. Side-Effects of Growth Hormone Therapy • Short-Term 1. Intracranial Hypertension –pseudotumor cerebri 2. Slipped Capital Femoral Epiphysis 3. Hypothyroidism 4. Insulin Resistant Hyperglycemia (6-fold increase in the risk for type 2 diabetes and no significant increase in the risk for type 1 diabetes) 5. gynecomastia 6. worsening of scoliosis New Treatments of Short statures 1. GRH Analogue 2. Recombinant Human Insulin-like Growth Factor-1 (rhIGF-1) for Laron’s Syndrome. 3. Plastic Surgery
  42. 42. Summary • Most common causes of short statures due to inaccurate measurements of stature • Short stature is a clinical diagnosis • Detail prenatal and postnatal hx is important to reach a diagnosis • Measurement of upper to lower segment should be checked to diagnose disproportionate short stature • Examining for dysmorphism is mandatary, most of chromosomal and genetic diseases causing ST • Detail dietary Hx and nutritional state should look it • Stature more important than weight, while most of chronic disease affect stature • Most of endocrine disease causing ST.
  43. 43. Short Stature
  44. 44. Q1. A 7-year-old child presented to the outpatient clinic because he was shorter than his friends in the class, on the taking history the child was outcome of normal vaginal delivery and was small for gestational age. His height was 109 centimeter below 3rd centile but it was on 50th centile for 5 years old male child, weight was 24 kilograms, was normal, his father has history of delay puberty. The wrist x ray revealed bone age of 5 years. What is your differential diagnosis? A. Malnutrition B. Constitutional short stature C. Turner syndrome D. Family short stature Answer: B, Constitutional Short Stature as there is family history and delayed.
  45. 45. Q2. During a health supervision visit, a 7-year-old girl is noted to be growing poorly. She has had a minimal increase in height during the last 2 years, but her weight continues to track at the 25th percentile. The mother reports that her daughter is a picky eater but is otherwise well. The girl has no constipation, diarrhea, or other signs of malabsorption. Her parents are not concerned because her mother is (155 cm) tall and her father is (168 cm) tall, and both had delayed puberty and had growth spurts in their late teenage years. Of the following, the MOST likely diagnosis is: A. Crohn disease B. Inadequate caloric intake C. Familial short stature D. Hypothyroidism E. Constitutional delay of growth Answer: D, Hypothyroidism. It is not constitutional short stature, as the height gain should be normal
  46. 46. • The family brought their 11 years old for his annual checkup They concern that their child Is shorter than their peers In the school they have only this child,he has no any chronic discase,his score In the school Is good; the height Is Just below 5th centile, the scrotum Is not enlarged and there Is scanty pubic hair mid parenteral height Is 168cm and consanguinity Is positive His bone age Is 9 year age. • What Is your diagnosis
  47. 47. • The following features suggest constitutional delay as a cause of short stature EXCEPT A. no signs or symptoms of systemic disease B. bone age delayed beyond the height age C. period of poorest growth often occurring between the ages of 18 and 30 months D. parental or sibling history of delayed development E. height predictions consistent with family characteristics
  48. 48. • Reported side effects of GH treatment include the following EXCEPT A. pseudotumor cerebri B. slipped capital femoral epiphysis C. gynecomastia D. worsening of scoliosis E. 6-fold increase in the risk for type 1 diabetes
  49. 49. • Indications for GH treatment to promote growth include the following EXCEPT A. GH deficiency B. chronic renal failure before transplantation C. celiac disease D. Prader-Willi syndrome E. Noonan syndrome
  50. 50. Thank You References: • …

Notas do Editor

  • Disproportionate Short Stature aka Dwarfism
  • Intra-Uterine Growth Restriction
  • Patau Syndrome
  • Edward Syndrome
  • Turner Syndrome
  • Turner Syndrome
  • Down
  • delayed pubery
    delayed bone age ( BA < cA)
    Dx: Constitutional
  • (B). Bone age delayed up to 2-4 years but consistent with height age
  • E
  • C

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