Approach to short stature

• 1. Approach to short stature Dr.Yassin M Al-Saleh

2. Their Prophet said to them: 'Allah has raised Saul to be your king. ' But they replied: 'Should he be given the kingship over us, when we are more deserving of it than he and he has not been given abundant wealth? ' He said: 'Allah has chosen him over you and increased him with amplitude in knowledge and body. Allah gives His kingship to whom He will. Allah is the 3. Objectives Introduction. Evaluation . Management. GH deficiency. Literature review . 4. INTRODUCTION Definition of short stature: Height -2 SD or < 3rd percentile. for children of that sex and chronologic age (and ideally of the same racial-ethnic group) . 5. Short stature /Growth failure height below 3rd percentile (-2SD for age and gender) height significantly below genetic potentials (-2SD below mid-parental target) abnormally slow growth velocity downwardly crossing percentile channels on growth chart (> 18 months age) 6. GeneticEnviroment alNutritionalNormal GrowthEndocrin eMetaboli c 7. phisology Statural growth is a continuous but not linear process. Rule of five. length50cm75cmagebirth1 yearGrowth velocity25cm/year100c m 4 year10cm/year5cm/year150c m 12 year 8. Evaluation Is child short ?velocity impaired?Any dysmorphic features or disproportionate ? 9. Is child short ? plotted on an appropriate growth chart. Length is measured lying down and should be used for infants and children up to 24 months of age . height is measured standing and should be used for children 2 years and above. 10. velocity impaired? If the growth velocity is subnormal (below the 25th percentile for age) without alternative physiological explanations, the child should be thoroughly investigated 11. velocity impaired? 12. causes familial short stature constitutional growth delay small for gestational agegenetic syndromes Down syndrome, Turner syndrome Prader-Willi syndromeskeletal dysplasia achondroplasia, hypochondroplasiaNonorganic aetiologies psychosocial deprivation 13. Causes cont. Systemic diseases infectious HIV, tuberculosis cardiac disease renal disease renal tubular acidosis chronic renal insufficiency Gastrointestinal Malapsorption ,celiac cystic fibrosis inflammatory bowel disease chronic lung disease, bronchial asthmamalignancy central nervous system disease 14. Causes cont. endocrinopathies hypothyroidism hypopituitarism isolated GH deficiency insensitivity (Laron syndrome) glucocorticoid excess Cushing syndrome, exogenous steroidsprecocious puberty pseudohypoparathyroidism pseudopseudohypoparathyroidism 15. Rosenfield RL and Cuttler L. Somatic Growth and Maturation in Endocrinology 4th Edition, Edited by DeGroot L , 2001 16. Growth hormone deficiency 17. Growth hormone deficiency epidemiology The incidence :about 1:4000 to 1:100003 to 30 percent of children with growth hormone deficiency (GHD) have an affected parent, sibling, or child. 18. Growth hormone deficiency epidemiologycongenitalidiopathicacquired 19. congenital Mutations: Prop-1 . POU1F1 . Pit-1 GHRH receptor gene defectsCNS malformations Septo-optic dysplasia 20. acquired Head trauma Tumor Inflammatory (Histiocytosis X, autoimmune) CNS radiation 21. CLINICAL PRESENTATION The single most important clinical manifestation of GHD is growth failure.Congenital : breech presentation and perinatal asphyxia. hypoglycemia and prolonged jaundice. The penis may be small. Higher male : female ratio 3 : 1. 22. CLINICAL PRESENTATION Acquired : severe growth failure. weight increase. 23. Evaluation This is accomplished through a thorough medical history and physical examination 24. History AntenatalBirthpre-eclampsia, hypertensiongestational agematernal history of smoking, alcohol,birth weight and lengthinfectionsmode of delivery Apgar scoreNutritionneonatal complicationpattern of growth from birth Social Maternal and child relationshipFamily History short staturePast historyage of onset of puberty in family membersMedical ,surgical and drug intakediseases in the family. 25. Physical Examination AnthropometrySystemic examheight, weight, head circumferencedysmorphismheight velocitypubertal stagingarm span ratios of upper to lower segmentsmid-parental height (MPH) 26. Investigation 1st step CBC, diff, ESR Electrolytes, creatinine, bicarbonate, calcium, phosphate, alkaline phosphatase, albumin, Urinalysis. TSH, Free T4. Tissue transglutaminase or other serological screen for celiac disease Karyotype Bone age 27. Greulich & Pyle Atlas 28. Investigation 2nd step Insulin-like growth factor-1 (IGF-I) (SM-C) Insulin-like growth factor binding protein-3 (IGFBP-3) 3rdstepprovocative growth hormone (GH) testing MRI 29. GH stimulation test insulin, arginine, clonidine , glucagon. GH peak after stimulation < 10 ng/ml 30. GH stimulationIGF-I and IGFBP-3Clinical and auxologybone age 31. Management treat underlying cause. psychological support for non-treatable causes. 32. indications for GH treatment GH deficiency. Turner syndrome. Noonan syndrome. small for gestational age. chronic renal insufficiency. idiopathic short stature. PraderWilli syndrome . 33. GH treatment GH dose: 0.18 - 0.3 mg/kg/day (0.5 1.0 units/kg/wk) at night.GH treatment should start with low doses and be titrated according to clinicalpatients should be monitored at 3month intervals 34. when to stop continue treatment till child reaches near final height. a height velocity of < 2cm / year over at least 9 months . bone age >13 years in girls and >14 years in boys. 35. complications increased intracranial pressure. SCFE. Impaired GTT. joint pain, muscle pain. carpal tunnel syndrome. Pancreatitis. Scoliosis. Increased risk of recurrence of neoplasim. 36. Literature review 37. GHD and idiopathic short stature are the commonest cause of SS in KSA 38. in patient with ISS keeping IGF-1 in the higher normal result in higher mean 39. catch up growth occurs in first 2 years of therapy followed by plateau 40. use of GH not assosiated with CNS tumor or leukemia progression or 41. use of GH assosiated with increased risk of second neoplasim . 42. GH safe in DM but increased daily insulin requirment should be considered. 43. GHD is associated with great Varity of anatomical abnormalities in MRI 44. GHD can cause incease in myocardial mass without changing in function 45. update: no update. 46. Any new treatment?? insulin-like growth factor (IGF). Aromates inhibitor in Contitutional delay of growth. 47. Appendages 48. History 1958: Maurice Raben purified GH from cadaver pituitary glands; treated patient who had GH deficiency. 49. History 1981: Boyer and Swanson use recombinant DNA technology to synthesize GH the first such use of this technology.1985: Four cases of Creutzfeldt-Jakob disease in recipients of cadaver-derived GH1985: FDA approves recombinant DNA-derived human GH for children with GH-deficiency 50. Gallery 51. Turner syndrome 52. prader-willi syndrome 53. russell silver syndrome 54. Seckel syndrome 55. achondroplasia