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Seminar short stature

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short stature

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Seminar short stature

  1. 1. Short Stature Presented by- Dr. Deepali Jain GUIDED BY- Dr. Deepak Dwivedi
  2. 2. References 1. Nelson Textbook of Pediatrics 2. Pediatric Endocrinology, Fifth edition Vol. 2 3. Practical strategies in Pediatric diagnosis and therapy 4. O. P. Ghai, 8th edition 5. Pubmed
  3. 3. Introduction Growth is the fundamental physiologic process that characterizes childhood. Secular trends in growth patterns are followed as indicators of children’s health on a population level. Growth can be worrisome along two variables: height (short stature) and velocity (growth failure).
  4. 4. Definition of Short Stature β€’ Height less than the 3rd percentile or 2SD below the mean for age of the population reference standard. β€’ Excessively short i.e. more than 2 SD below the Mid- Parental Height (MPH) or Target height (TH) even if the height recorded is within the normal population percentiles for age. β€’ Growth velocity less than 25th percentile on a velocity curve over a period of 6-12 months. β€’ Dwarfism refers to more severe short stature, defined as height below 3 SD for age & gender norms.
  5. 5. Growth Velocity β€’ Growth velocity = π»π‘’π‘–π‘”β„Žπ‘‘ π‘π‘š π‘Žπ‘‘ π‘‘π‘–π‘šπ‘’2β€•π»π‘’π‘–π‘”β„Žπ‘‘ π‘π‘š π‘Žπ‘‘ π‘‘π‘–π‘šπ‘’1 π‘‡π‘–π‘šπ‘’2βˆ’π‘‡π‘–π‘šπ‘’1(π‘šπ‘œπ‘›π‘‘β„Žπ‘ ) Γ— 12(months/year) β€’ Thus, abnormally slow growth velocity, or height dropping across two major centile lines on the growth chart are the two other definitions of worrisome growth.
  6. 6. Significance β€’ The Social Problem – Short stature is a cause of psychosocial stress, and the extent to which this is a problem depends on the severity of the height deficit, the degree of tolerance in the local population, and the child’s coping skills. β€’ The Medical Problem – Multiple diseases can present solely with growth failure, such as celiac disease, inflammatory bowel disease, cystic fibrosis, renal tubular acidosis, and human immunodeficiency virus (HIV) infection.
  7. 7. Although girls were referred to an academic growth center less often and with greater height deficits than the boys, a significantly higher percentage of the girls had underlying pathology that requires intervention The distribution of each major diagnostic category for (A) boys and (B) girls referred to an academic Growth Center in 2001.
  8. 8. Normal patterns of Growth β€’ Fetal Growth & Birth size – Reflects mainly maternal factors – maternal or uterine size, parity and multiparity, nutrition, and uteroplacental blood flow small effect of congenital disorders on prenatal growth β€’ Postnatal Growth – The rate of linear growth is greatest in infancy genetic or familial influences begin to exert their effect on height
  9. 9. Growth velocity YEAR INCREMENT (in cms) 1 25 2 10 3,4 7 5,6 6 7 – Puberty 5 Mid - puberty 9 – 10.3 Growth accelerates again at puberty. The timing of the pubertal growth spurt differs between girls and boys.
  10. 10. Etiology of Short stature Normal variants – 1. Constitutional growth delay 2. Genetic/ Familial Short stature 3. Combined Pathological – 1. Nutritional i. Macronutrient deficiency ii. Micronutrient deficiency Decreased intake – kwashiorkor; anorexia nervosa Decreased absorption – inflammatory bowel ds.;celiac ds.; cystic fibrosis; malabsorption
  11. 11. Etiology of Short stature 2. Endocrinal causes – Hypothyroidism; Isolated GH deficiency; Hypopituitarism; Glucocorticoid excess; Precocious puberty 3. Chromosomal defects – Turner; Down syndrome; Prader willi syndrome 4. LBW short stature – Sporadic; Russell Silver syndrome; Cornelia de lange syndrome; Bloom syndrome 5. Defects in Bone development – Achondroplasia; Chondrodystrophies
  12. 12. Etiology of Short stature 6. Metabolic causes – Mucopolysaccharidosis; other storage disorders 7. Chronic diseases – Chronic Liver ds.; Chronic renal ds.; Chronic infections; CHD; Poorly controlled Diabetes Mellitus 8. Psychosocial deprivation 9. Chronic drug intake – Glucocorticoids; High dose estrogens & androgens; Methylphenidate; Dextroamphetamines
  13. 13. Assessment of Short stature 1. Accurate height measurement 2. Assessment of height velocity 3. Comparison with population norms 4. Comparison with child’s own genetic potential 5. Assessment of body proportion 6. Sexual maturity rating 7. Bone age
  14. 14. Accurate height measurement β€’ <2 years: supine length; infantometer β€’ >2 years: standing height ; stadiometer β€’ Bulky diapers removed β€’ Child is placed supine on the infantometer β€’ Head held firmly against a fixed upright head board by one person β€’ Legs straightened, feet at right angles to legs
  15. 15. Accurate height measurement β€’ Without footwear β€’ Heels, buttocks, scapulae and occiput touching the wall β€’ Lower border of the eye socket in the same horizontal plane as external auditory meatus ( FRANKFURT PLANE) β€’ Looking straight ahead β€’ Gentle but firm pressure upwards applied to the mastoids from underneath β€’ A Harpenden stadiometer which determines height accurately (within 0.1 cm) is the most sophisticated instrument.
  16. 16. Assessment of Height velocity YEAR INCREMENT (in cms) 1 25 2 10 3,4 7 5,6 6 7 – Puberty 5 Mid - puberty 9 – 10.3 β€’ Rate of increase in height over a period of time expressed as cm/ yr. β€’ All pathological causes of short stature will cause a poor growth velocity.
  17. 17. Comparison with population norms β€’ The height should be plotted on appropriate growth charts. β€’ Any child who falls behind in growth across major percentiles in the chart should be evaluated, even when the height is not below the third percentile. β€’ Use any chart but adjust for mid-parental height.
  18. 18. Examples of Growth charts – 1. IAP (IAP Growth Monitoring guidelines 2007) 2. WHO (MGRS Study 2006) 3. CDC 4. British 2005 5. ICMR 6. 1989 Affluent Indian (Agarwal et al) 7. 2009 Affluent Indian (Khadilkar et al)
  19. 19. Comparison with child’s own genetic potential β€’ Mid parental height (MPH) gives an estimate of the child’s genetically determined potential. MPH for boys = π‘€π‘œπ‘‘β„Žπ‘’π‘Ÿβ€² 𝑠 +πΉπ‘Žπ‘‘β„Žπ‘’π‘Ÿβ€² 𝑠 β„Žπ‘’π‘–π‘”β„Žπ‘‘ (π‘π‘š) 2 + 6.5 cm MPH for girls = π‘€π‘œπ‘‘β„Žπ‘’π‘Ÿβ€² 𝑠+πΉπ‘Žπ‘‘β„Žπ‘’π‘Ÿβ€² 𝑠 β„Žπ‘’π‘–π‘”β„Žπ‘‘ (π‘π‘š) 2 - 6.5 cm β€’ The target height obtained by this method is then applied to the 20-year line of the gender-appropriate growth chart.
  20. 20. The projected height is determined by extrapolating the child’s growth along his or her own channel. If the projected final height is within 5cm of the midparental target height, the child’s height is appropriate for the family
  21. 21. Assessment of Body proportion Proportionality is assessed by – β€’ Upper segment : Lower segment Ratio β€’ Comparison of arm span with height Based on this, short stature can be β€’ Normally US : LS Ratio – οƒ˜ Birth: 1.7 οƒ˜ 3 years: 1.3 οƒ˜ 6 years: 1.1 οƒ˜ 10 years: 1 οƒ˜ Adults: 0.9 Proportionate Disproportionate
  22. 22. β€’ Increase in US : LS ratio – - Rickets - Achondroplasia - Untreated Congenital Hypothyroidism β€’ Decrease in US : LS ratio – - Spondylo-epiphyseal dysplasia - Vertebral anomalies β€’ Conditions that adversely affect the vertebrae, such as scoliosis or irradiation, may result in growth retardation and disproportionately long arms. β€’ In case of disproportionate short stature, further measurements of the various limb segments should also be made. Normally, SE/EMC = 1 Rhizomelia = 0.98
  23. 23. Sexual Maturity Rating (SMR) β€’ SMR stage should be assessed in older children. Short stature: οƒ˜ precocious puberty due to early epiphyseal fusion. οƒ˜ Delayed puberty as growth spurt is delayed.
  24. 24. Skeletal Maturation β€’ The pattern of skeletal maturity is also helpful in differentiating the type of short stature. β€’ BONE AGE - method of assessing skeletal maturity observed directly by visualization of epiphyseal growth plates on X-ray. β€’ X-rays useful to determine skeletal age – 1. <1 year: shoulder x-ray 2. 1-13 years: hands and wrists 3. >13 years: elbow and hip
  25. 25. β€’ Bone age is necessary: - in the diagnosis of FSS and CGD; - for interpreting hormone levels in pubertal age; - for diagnosis of precocious puberty or hyperandrogenism; - for deciding whether to treat or not the above mentioned conditions; - for predicting adult height in normal children; - in evaluating any child with growth and/or puberty disorders; - in deciding the time to start replacement therapy in hypogonadism; - in monitoring children on growth hormone therapy.
  26. 26. Methods for bone age evaluation 1. Greulich & Pyle method - In their method for each of these bones an elaborate description of its developmental stages is included. 2. Tanner and Whitehouse method - It is based on a set of bone’s standard maturity for each age population. 3. Roche–Wainer–Thissen – The five predictor variables in the RWT method are recumbent length, weight, bone age, chronological age, and parental heights. Computer programs have been developed for the calculation of both mid-parental target heights and predicted adult heights (by all three methods).
  27. 27. Evaluating a child with short stature History – Maternal History Birth History Growth pattern Developmental milestones Family History Dietary History Medical History Physical Examination – β€’ Measurements: weight, standing height, sitting height, head circumference. β€’ Height in relation to previous heights (height velocity), parents’ heights, stage of puberty, weight. β€’ Genitalia and pubertal development β€’ Body composition: subcutaneous fat and muscle bulk β€’ Unusual or dysmorphic features β€’ Signs of specific diseases
  28. 28. History and Presentation β€’ Hypoglycemia, prolonged - Congenital GH deficiency jaundice, small penis β€’ Antenatal - IUGR β€’ Puffy extremities - Turner syndrome β€’ Fever, weight loss, - Chronic infections anorexia β€’ Chronic diarrhoea/ - Malabsorption bulky frothy stools β€’ Dyspnea, cough, cyanosis - Systemic diseases β€’ Headache, vomiting, - Pituitary or hypothalamic SOL diplopia β€’ Polyuria - CRF, RTA β€’ Weight gain, obesity - Cushing syndrome β€’ Constipation, lethargy, - Hypothyroidism delayed milestones
  29. 29. Clues on Examination β€’ Pallor - Anemia β€’ Hypertension - CRF, Cushing syndrome β€’ Dysmorphism - Genetic disorders β€’ Midline defect - Hypopituitarism β€’ Vitamin deficiency, - Malabsorption, PEM Wt for Ht β€’ Frontal bossing, - Congenital GH deficiency depressed nasal bridge β€’ Disproportionate body - Skeletal dysplasia, Rickets proportion β€’ Central obesity, - Cushing syndrome proximal weakness β€’ Papilloedema, visual defect, - Pituitary Tumor optic atrophy β€’ Goiter, delayed dentition, - Hypothyroidism Short lower limbs
  30. 30. APPROACH Measurement Normal Abnormal Clues H/O & EXAM Present Absent Assess growth rate & bone age <4 cm/yr >4 cm/yr Bone age Bone age delayed normal normal delayed do screenning inv. Genetic ds GSS CGD
  31. 31. Stepwise investigative work - up β€’ Level-1 investigations – 1. CBC 2. CRP & ESR 3. Urinalysis 4. Stool examination 5. S. Electrolytes 6. Liver and Renal function tests 7. Bone age β€’ Level-2 investigations – 1. Thyroid function tests 2. Karyotyping 3. Prolactin 4. Neuroimaging β€’ Level-3 investigations – 1. Coeliac serology & duodenal biopsy 2. GH stimulation test & serum IGF-1 levels
  32. 32. Differential Diagnosis β€’ Variants of Normal – Familial short stature – Constitutional delay β€’ Pathologic/Growth Failure – Endocrinal – Genetic – Systemic – Psychosocial
  33. 33. Familial/Genetic short stature β€’ Birth weight and length below 3rd percentile for GA β€’ Although the growth channel is low, it parallels the normal growth curve. β€’ Family history of short stature β€’ Normal onset of puberty β€’ Bone age appropriate for chronological age β€’ The adult height is likely to be shorter than average.
  34. 34. Constitutional growth delay β€’ The most common cause of short stature and sexual infantilism in the adolescent. β€’ Delayed onset of puberty β€’ A late adolescent growth spurt (Late Bloomers) β€’ Final height is normal β€’ Bone age delayed A positive family history of delayed but normal puberty and growth, a normal sense of smell (to exclude Kallmann syndrome), and normal neurologic findings favor constitutional delay.
  35. 35. Intrauterine Growth Retardation β€’ Small for gestational age at birth β€’ Slow growth from early infancy β€’ Normal bone age,sexual development β€’ Normal GH levels β€’ Normal growth pattern in family β€’ Serum IGF-1 levels were lower, and GH levels higher β€’ Higher basal and stimulated suggested GH resistance IUGR infant who maintains normal growth rates but does not exhibit catch-up growth.
  36. 36. Growth hormone deficiency β€’ Congenital - -idiopathic -associated with midline defects (absent septum pellucidum, optic nerve hypoplasia [septooptic dysplasia], cleft palate, holoprosencephaly, single central incisor) -defects in the genes for GH β€’ Acquired – -birth injury -head injury -cranial irradiation -craniopharyngioma β€’ Growth hormone insensitivity (Laron syndrome)
  37. 37. β€’ Clinical features – - Normal birth size - Mid-facial crowding - Round cherubic facies - Depressed nasal bridge - Micropenis - Frontal bossing - Heightage < weight age - Neonates – hypoglycemia/ prolonged jaundice - Bone age is delayed - Body proportions are normal
  38. 38. β€’ Lab. Diagnosis – - subnormal GH levels (<7 or 10 ng/mL) in response to two pharmacologic stimuli (clonidine, arginine, insulin-induced hypoglycemia). - Low IGF-1 and IGFBP3. - Neuroimaging for acquired causes. β€’ Treatment – - Replacement therapy with hGH. - Recommended dose of hGH is 0.18-0.3 mg/kg/wk. It is administered subcutaneously in seven divided doses until near final height is achieved.
  39. 39. Hypothyroidism β€’ May be congenital or acquired β€’ Clinical features – - Prolongation of physiologic icterus - Birth size normal - Feeding difficulty, sluggishness - Large tongue, large abdomen - Poor appetite - Umbilical hernia - Cold & mottled extremities - Wide open ant. & post. Fontenelle - Short stature, Bone age delayed - Myxoedema - Dry skin, delayed puberty A.Congenital hypothyroidism in an infant 6 mo of age B.Four mo after treatment, decreased puffiness alert appearance
  40. 40. Lab. Diagnosis – -Newborn screening for congenital Hypothyroidism is routine - If abnormal repeat - Elevated serum TSH and low T4. - Positive TSH receptor-blocking antibodies- diagnosis for transient congenital Hypothyroidism - If normal TSH & low T4, look for Pituitary or hypothalamic cause - Thyroid antibodies (antithyroglobulin, antimicrosomal antibodies) is consistent with autoimmune thyroiditis. Treatment – -In neonates, the initial starting dose is 10-15 ΞΌg/kg. - Children with hypothyroidism require about 4 ΞΌg/kg/24 hr. - Monitoring of free T4 (or FTI) and TSH is essential for optimizing the dose of medication. - Educate parents and child about disease.
  41. 41. Achondroplasia β€’ Most common osteochondrodystrophy. β€’ caudal narrowing of spinal canal β€’ Autosomal dominant disease. β€’ But there are studies present which shows the germline and somatic mosiacism in achondroplasia [J Med Genet 2000;37:956-958 doi:10.1136/jmg.37.12.956]. β€’ Treatment – - Counselling of parents - Dietary advice - Psychological counselling - Annual monitoring of height and weight - Drugs: GH
  42. 42. Turner syndrome - classic form being 45,XO - progressive deviation of height away from the normal growth curve - Streak gonads - small birth size and dysmorphic features - Abnormally high levels of the gonadotropins, LH, FSH Treatment – β€’ GH therapy β€’ sex steroid replacement therapy
  43. 43. Psychosocial Dwarfism/ Hyperphagic Dwarfism β€’ Profound short stature without apparent malnutrition. β€’ Characterized by functional hypopituitarism. β€’ Low IGF-1 levels & inadequate response to GH stimulation. β€’ Less stressful environment is beneficial. Between ages 6 and 8 years, he had chemical evidence of growth hormone (GH) deficiency. B, After placement in a chronic care facility (arrow), his growth rate improved markedly, and his GH levels reverted to normal.
  44. 44. Take Home Message β€’ Take height by proper method and plot it on appropriate growth chart. β€’ Use Growth Charts appropriately. β€’ Every child must have proper growth monitoring so as to know whether the child is on his proper road to growth. β€’ Any child with short stature is not always familial and should evaluated completely.

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