short stature

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A basic presentation for orientation of undergraduate and postgraduate students

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  • 1. Short StatureA detailed reviewBySaptharishi L G

2. Napoleon Bonaparte 3. Definition 4. Failure To Thrive Vs Short StatureFTT primarily poor weight gain in infants & young childrenFTT linear growth may be secondarily affectedSS primarily subnormal linear growth thruout childhood & adolescence 5. Approach 6. Approach to achild presentingto OPD withcomplaints ofshort stature 7. IDIOPATHIC short statureDEFN heterogeneous state that encompasses individuals of short stature, including those of FSS, for which there is currently No recognized cause condition in which the height of an individual is > 2 SD score (SDS) below the corresponding mean height for a given age, sex, and population group without evidence of systemic, endocrine, nutritional, or chromosomal abnormalities 8. Steps in assessmentAccurate ht measurementAssessment of body proportionsAssessment of height velocityCompare with population normsCompare with genetic potentialSexual Maturity Rating 9. Calculation Of Genetic PotentialUnderlying concept Growth until 2 yrs : 66% drift across centiles 2 yr onwards : Growth ChannelsMid Parental HeightEstimated Target HeightTarget Height RangePractical demonstration 10. Bone ageAka skeletal ageTwo internationally accepted methods Gruelich Pyle atlas method Tanner & Whitehouse (TW2) methodUnderlying concept further growth potentialUsefulness in short statureRecent Korean study comparing bone age in FSS Vs CDGP 11. CAUSES OF SHORT STATURE 12. Familial short statureComes from a short but otherwise normal familyOne or both parents (and usually few other family members) 1.5 to 2 SD below mean htGrowth channel is low but parallels normal curveIf GV is low or stature is extremely low out of keeping with the family pattern, Suspect other problemsNORMAL bone age IMPLICATION 13. FSS contdEtiology: Not clear Classified under ISS Subtle disorders of GH or its receptors- beyond sensitivityof tests ?? Neuro-secretory dysfunction : abnormal release patternbut normal response to testingManagement Counselling & Reassurance 14. Constitutional delay in growth &adolescenceAka CDGP, CDGDAlso considered a normal variantDelayed onset of puberty & delayed growth spurtH/o delayed puberty/ growth spurt in one or both parents (or other family members)The final stature of that family member is NORMAL 15. CDGA contd..Delayed bone age Room for growthSubtle dysregulation of GH secretion?DDx Chronic illness, PanhypopituitarismDifferentiated by GnRH testing / LH assayMANAGEMENT: Reassurance & Counselling Role of short course of low-dose sex steroids Role of GH therapy 16. Endocrine causesGH deficiency Congenital with midline defects, with pituitary agenesis,genetic defects Acquired Tumors, LCH, Infxns, trauma, hydrocephalus,autoimmune, psycho-social, radiationLaron dwarfismHypothyroidismGlucocorticoid excess endo and exogenousDM / DI /Hypophosphatemic rickets 17. GH deficiencySevere GHD : 1 in 4000 Truncal obesity with fat marbling / MICROPENIS Crowding of mid-facial features with cherubic facies High pitched voice / poor musculature / adiposity Delayed puberty Inadequate response on stimultn test ( 15 mU/L after 30 -60 min Potentially dangerous expert endocrinologistRole of Urinary GH testing non invasive but how useful? 20. HypothyroidismCongenital or acquired (IDD/auto-immune)Impaired linear growth + Goitre + Relative obesityO/E : Bradycardia, dry hair/skin, delayed reflexesClassical history of dry skin / constipation / cold intolerance not frequent in childrenBONE age significant delayRx Thyroxine replacement 21. Corticosteroid excessEndogenous Cushing syndrome / cushing disease / adrenal tumorMostly exogenous in our settings (Chooran) / prescribed steroidsCotinues to gain wt at a rapid rate despite a fall in ht velocity (compare with exogenous obesity)24 hr urine sample for cortisol testingTreat primary cause 22. Disproportionate Short stature Innate failure of bone or cartilage to grow normally Usually inherited (AD) with clear-cut family history NOTE : In these children, Bone age NOT reliable Achondroplasia / Hypochondroplasia Characteristic radiologic findings with Increased US/LS ratio Progressive deceleration of growth in infancy Humerus & femur particularly short 125 cm /131 cm final stature Other osteochondrodysplasias 23. Chromosomal disordersTurner syndrome SHOX gene (also plays role in ISS) SS + ovarian failure Characteristic features of Turners High dose GH therapy Separate growth chartsPrader Willi uniparental disomyDown syndrome independent of hypothyroidismRussel- Silver (primordial dwarfism)Bloom / Williams / Fetal alcohol / Fanconi / LMB 24. Emotional deprivation Aka deprivation dwarfism / psychosocial dwarfism Two types with food deprivation / Pure emotional Height age < weight age May mimic hypopituitarism- abnormal GH response to testing Rapidly normalizes after initiating therapy When to suspect ? History typical . Good social history required Frozen watchfulness & lack of emotional bonding Munchhausen by proxy 25. NutritionalMOST common cause in INDIAChronic PEM / Under nutritionCause povertyWeight age < Height age3 day diet record prospectiveDietary management as per protocol 26. Chronic diseases Why short stature ?? Poor appetite / poor intake IBD / renal dysfunction Poor absorption Malabsorption syn., Celiac disease Medications used Bronchial asthma Chronic acidosis - RTA Secondary endocrine dysfunction Typical history SS may be the presenting feature of a chronic disease espIBD, celiac disease and renal dysfunction Rx primary disease ; GH therapy in CRF 27. HOW TO INVESTIGATE ACHILD WITH SHORTSTATURE ?? 28. RED FLAGS in short statureHeight > 2-2.5 SD below mean for ageSubnormal growth velocityAbnormal body proportionsAbnormal Height : weight ratioDysmorphic featuresGoitreAbnormal CNS & eye findings 29. GROWTHHORMONERole & Issues 30. Role of Growth Hormone Placebo effect of GH What is the response to GH ? >90% children with GHD achieve adult ht within their targetrange ht Response in CRF & Turners is also prominent Side effects of GH therapy Glucose intolerance, Hyperinsulinism, hyperlipidemia, Hypertension, Type II DM, Benign intracranial hypertension When to avoid GH ? Chromosome fragility syndromes 31. UPCOMING CONCEPTS>>> 32. Actually how advantageous is tallstature ??How to identify ideal ht for a person ?Are there any benefits of pushing a child into normalcy ?Psychosocial benefits of Tall stature 33. Pitfalls of the concept ofGENETIC POTENTIALChild also inherits an environmentPossibility of an unrecognized & untreated growth disorder in parentsGH deficiency / skeletal dysplasia / pseudohypoparathyroidism must be excluded