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Everything You Need to Know About Short Stature in Children
- 1. SHORT STATURE DR SIDDHARTHA JOSHI MBBS,D.PAEDIATRIC(SETH GSMC medical college and KEM hospital),DNB PAEDIATRICS (DELHI)
- 2. WHY WE NEED TO TALK ABOUT SHORT STATURE • 2-3% CHILD IN NORMAL POPULATION ARE SHORT STATURE • BECAUSE IT CAN BE A SIGN OF DISEASE OR DISABILITY • A SOCIAL STIGMA CAUSING PSYCHOLOGICAL STRESS
- 3. WHAT IS SHORT STATURE • LENGTH OR HEIGHT OF THE CHILD BELOW 3RD CENTILE OR -2SD OF THE EXPECTED OF AGE AND SEX • HOWEVER DIAGNOSIS SHOULD BE MADE CAREFULLY IN PREPUBERTAL CHILD AS MAY BE THEY ARE SLOW GROWERS • IT IS DIFFERENT FROM FAILURE TO THRIVE
- 4. CLASSIFICATION • NORMAL VARIANT SS-20% CHILDREN WITH NORMAL GROWTH POTENTIAL WHO ARE RELATIVELY SLOW GROWERS IN CHILDHOOD BUT ACHIEVE NORMAL ADULT HEIGHT BY MORE MARKED GROWTH SPURT DURING ADOLESCENT OR DELAYED COMPLETION OF PUBERTY • PRIMORDIAL SS-15 T0 20%CHILDREN WITH INHERITEDLY LOW GROWTH POTENTIAL WHO REMAILN SHORT STATURE EVEN AFTER COMPLETION OF PUBERTY • SECONDARY SS-50 TO 60%-CHILDREN WITH NORMAL GROWTH POTENTIAL WHICH IS HAMPERED BY EXOGENEOUS FACTOR
- 5. ETIOLOGY • PHYSIOLOGICAL(NORMAL VARIANT)- FAMILIAL CONSTITUTIONAL • PRIMORDIAL SHORT STATURE- GENETIC-CHROMOSOMAL,MONGOLISM,TURNER INBORN ERROR OF METABOLISM-HURLER OTHER-PROGERIA,SILVER RUSSEL SYNDROME SKELETAL DYSPLASIA-SHORT LIMB-ACHONDOPLASIA SHORT ARM-SPONDYLOEPIPHYSIAL DYSPLASIA
- 6. • SECONDARY SHORT STATURE- NUTRITIONAL-PEM,ZINC DEFICIENCY EMOTIANAL OR PSYCHOGENIC CHRONIC INFECTION-TB,AIDS,UTI,WORMS CHRONIC SYSTEMIC DISEASE-GI-MALABSORPTION SYNDROME , CHRONICLIVER DISEASE RENAL-CRF,RTA CARDIAC- CYANOTIC CHD,CCF PULMONARY-ASTHMA,TUBERCULOSIS CNS-DIENCEPHALIC SYNDROME OF INFANCY BLOOD-HAEMOGLOBINOPATHY,MALIGNANCY ENDOCRINE-GROWTH HPORMONE DEFICIENCY,HYPOTHYROIDISM,CAH,CUSHING,POORLY CONTROLLED DIABETES MELLITUS,RICKETS,PSEUDOHYPOPARATHYROIDISM,IGF-1 DEFICIENCY,PRECOCIOUS PUBERTY IATROGENIC-STEROID,CYTOTOXIC,RADIOTHERAPY
- 7. SYNDROME ASSOCIATED WITH OBESITY AND SHORT STATURE • PRADER WILLI • BARDET BIEDLE • ALSTROM • DOWN • FROLICH • RUSSEL SILVER • TURNER • NOONAM • DUBOWITZ(HYPOPLASTIC ANEMIA=SHORT STATURE=PECULIAR FACIES) • SECKEL SYNDROME(BIRD HEADED DWARFISM) • LARON SYNDROME
- 9. INTRA UTERINE INSULINE LIKE GROWTH FACTOR BIRTH TO 1 YEAR • NUTRITION 1 TO 3 YEAR • THYROID • NUTRITION 2 TO 8 YEAR • GROWTH HORMONE • THYROID • NUTRITION >8 YEAR SEX HORMONE GROWTH HORMONE NUTRITION
- 10. DIAGNOSIS • DETAILED HISTORY • CAREFUL EXAMINATION • INVESTIGATION
- 11. INTERROGATIVE HISTORY • H/O CONSANGUINITY • H/O LATE ONSET FETAL MOVEMENT • H/O POLYHYDROAMNIOS • H/O IU INFECTION • H/O LIFESTYLE OF MOTHER(SMOKING,ALCOHOL) • H/O NON PITTING OEDEMA OVER HAND OR FEET • H/O POLYURIA,HEMATURIA,OLIGURIA • H/O RECURRENT RESPIRATORY TRACT INFECTION • H/O OTITIS MEDIA • H/O HORSE VOICE,CONSTIPATION • H/O DIETIC DEFICIENCY • H/O BROKEN HOME • H/O EMOTIONAL DEPRESSION
- 12. EVALUATION HISTORY ETIOLOGY LBW SGA POLYURIA CRF,RTA CHRONIC DIARRHOEA MALABSORPTION NEONATAL HYPOGLYCEMIA/MICROPENIS/JAUNDICE GH DEFICIENCY HEADACHE/VOMITING/VISUAL PROBLEM ICSOL DIETRY INTAKE UNDERNUTRITION SOCIAL HISTORY PSYCHOSOCIAL DWARF DELAYED PUBERTY IN PARENTS CONSTITUTIONAL DELAY BODY DISPRAPORTION SKELETAL DYSPLASIA/RICKETS PALLOR CRF DYSMORPHISM GENETIC SYNDROME HYPERTENSION CRF GOITER/Coarse skin HYPOTHYROIDISM CENTRAL OBESITY/STRIAE CUSHING SYNDROME
- 13. FLOPPINESS AND FEEDING DIFFICULTY PRADER WILI SYNDROME CAFE AU LAIT SPOT FANCONI,RUSSELSILVER,NOONAM,NEUR OFIBROMATOSIS METACARPAL SHORTENING PSEUDOHYPOPARATHYROIDISM,TURNER CARDIAC MURMER CHD,TURNER MENTAL RETARDATION HYPOTHYROIDISM,DOWN/TURNER,PSEU DOHYPOPARATHYROIDISM LARGE HEAD RUSSEL SILVER SYNDROME RADIAL HAND ANOMALY FANCONI ANEMIA
- 14. GENERAL EXAMINATION • HANDS AND FEET TOGETHER-ASYMMETRY IN RUSSELSILVERMAN SYNDROME • TRIDENT HAND-ACHONDROPLASIA • SHORT 4TH METACARPAL-TURNER
- 15. • ARMS OUT STRAIGHT-TO DETECT CUBITAS VALGUS IN TURNER AND NOONAM
- 16. • CHARACTERISTIC FACIES- ACHONDROPLASIA,TURNER,NOONAM,RUSSE L SILVERMAN SYNDROME,MPS
- 17. HEAD AND NECK-SHORT WEBBED NECK- TURNER AND NOONAM LOW POSTERIOR HAIR LINE-TURNER LOW SET EARS-NOONAM COARSE FEATURES-MPS BLUE SCLERA-OI
- 18. • CHEST AND ABDOMEN-RICKETS • WIDE SPACED NIPPLE-TURNER • DISTENDED ABDOMEN-COELIAC • HEPATOSPLENOMEGALY-MPS,THALLASEMIA • STRIA-CUSHING SYNDROME
- 19. • TANNER STAGING • ADVANCED-PRECOCIOUS PUBERTY • DELAYED-MATURATIONAL DELAY,CHRONIC ILLNESS,CRF,CHD,ENDOCRINE DISORDER
- 20. • LOWER LIMBS-BOW LEG AND OTHER SIGNS OF RICKETS
- 21. • BACK EXAMINATION- SCOLIOSIS,KYPHOSIS,KYPHOSCOLIOSIS • LOOK FOR PALLOR,ICTERUS,CYANOSIS,CLUBBING TO RULE OUT CHRONIC DISEASE
- 29. HOW TO MEASURE HEIGHT • 0-2 YEAR • SUPINE LENGTH-INFANTOMETER • CHILD SHOULD BE RELAX • HEAD FIRMLY PLACED AGAINST INFLEXIBLE BOARD • LEGS FULLY EXTENDED AND FEET 90ANGLE TO LEG ON MOVABLE FLAT BOARD • >2 YEAR-HARPENDER STADIOMETER(ACCURACY-0.1CM) • CHILD SHOULD STAND ERECT WITH HEAD IN FRANKFURT PLANE • HEEL SHOULD BE TOGETHER • BACK OF HEAD,THORACIC SPINE,BUTTOCKS, AND HEEL SHOULD TOUCH THE VERTICAL AXIS OF THE STADIOMETER • •
- 30. TARGET HEIGHT BOY •[(MOTHERS HEIGHT + 13)+ FATHERS HEIGHT/2] +/- 6CM GIRL •[(MOTHERS HEIGHT)+ (FATHERS HEIGHT-13)/2]+/- 6CM
- 31. AGE OF PRESENTATION CAUSE OF SHORT STATURE BIRTH TO 2 YEAR FAMILIAL SHORT STATURE,RICKETS,SKELETAL DYSLASIA,CHRONIC UNDER NUTRITION 2-5 YEAR UNTREATED CONGENITAL HYPOTHYROIDISM,GROWTH HORMONE DEFICIENCY,TURNER,CHRONIC SYSTEMIC DISEASE 5-9 YEAR CONSTITUIONAL,CHRONIC SYSTEMIC DISEASE 9 YEAR AND ABOVE FAMILIAL,SHORT STATURE,CHRONIC SYSTEMIC DISEASE,ACQUIRED PRIMARY HYPOTHYROIDISM,ACQUIRED GROWTH HORMONE DEFICIENCY,RADIOTHERAPY
- 32. SCREENING TEST • ANTHROPOMETRY • CBC,HB,ESR • BONE AGE • RENAL AND LIVER FUNCTION TEST • TOTAL PROTEIN , ALBUMIN • S.CA,P,ALP • BLOOD GAS, SERUM ELECTROLYTE • SOMETO MEDIAN C,THYROID FUCTION,CORTISOL AND SEX STEROID • COELIAC SCREEN • MAL ABSORPTION WORK UP • IGF 1 • GENETIC STUDY
- 33. FAMILIAL CONSTITUTIONA L GENETIC SKELETAL SECONDARY ENDOCRINAL PARENTAL HEIGHT LESS N N N N N BIRTH WEIGHT N N LESS N N N EARLY GV<3YR LESS LESS LESS LESS N/LESS N/LESS LATE GV >3 YR N > 4CM/YEAR N >4CM/YEAR LESS LESS LESS N/LESS ONSET OF PUBERTY N LATE N/LATE N N/LATE LATE/EARLY FINAL ADULT HRIGHT LESS N LESS LESS N/LESS LESS BODY PRAPORTION N N N DISPRAPORTINA TE N N/DISPRAPORTI ONATE WEIGHT FOR HEIGHT N N N MORE LESS MORE BONE AGE VS CA N LESS N N LESS LESS BONE AGE VS HA MORE N MORE MORE MORE LESS
- 34. IS THE CHILD SHORT STATURE ? YES IS THE HEIGHT WITHIN MPH YES BA=CA>HA FAMILIAL BA=HA<CA CDGP NO ELICIT HISTORY TO RULE OUT SYSTEMIC DISESEASES,MALNU TRITION,IUGR,DYS MORPHIC,CHROMO SOMAL SYNDROME,HORM ONE DEFICIENCY NO REASSURANC E AND ASSESS GROWTH VELOCITY
- 35. DISPRAPORTIONATE SHORT STATURE SHORT LIMB PROXIMAL RHIZOMELIC ACHONDROPLESIA HYPO CHONDROPLASIA MIDDLE MESOMELIC SHOX MESOMALIC DYSPLASIA DISTAL ACROMELIC ELLISVAN CREVALD SYNDROME SHORT TRUNK CONSIDER MUCOPOLLYSACHA RIDE 24 HOUR URINARY COLLECTION,GENETIC TESTING,CONSIDER ENZYME REPLACEMENT CLINICAL FEATURE OF SHOX GENE DEFECT MUTATION POSITIVE THAN CONSIDER GH DEFICIENCY
- 36. • CA=BA=HA NORMAL CHILD • CA=BA>HA FAMILIAL OR IDIOPATHIC • CA>HA=BA CDGP • CA>HA>BA ENDOCRINAL DISORDERE
- 37. FEATURES FAMILIAL CONSTITUTIONAL SEX BOTH EQUALLY AFFECTED MORE COMMON IN BOYS LENGHT AT BIRTH NORMAL NORMAL FAMILY HISTORY OF SHORT STATURE DELAYED PUBERTY PARENT SHORT STATURE SHORT AVERAGE HEIGHT VELOCITY NORMAL BUT GAIN >4 CM/YEAR NORMAL PUBERTY NORMAL DELAYED BA AND CA BA=CA>HA CA>BA=HA FINAL HEIGHT SHORT NORMAL
- 38. CHILD WITH CDGP HEIGHT <3RD PERCENTILE FOR POPULATION OR FAMILY CHRONOLOGICAL AGE >14 YEAR SEVERE PHYSIOLOGICAL DISTRESS TO THE ADOLESCENT CHILD WITH STAGE 1 OR2 TANNER SMR NO REAASURE Family and FOLLOWUP IN 6 MONTH YES TRIAL OF TESTOSTERON THERAPY TESTOSTERON 50 MG IM- 3 DOSES MONTHLY STOP THERAPY NORMAL PUBERTY NOT RESUMED EVALUATE NORMAL PUBERTY RESUMED REASSURE FAMILY
- 39. CHILD WITH FSS MONITOR GROWTH VELOCITY FOR 1 YEAR GROWTH VELOCITY >25TH CENTILE CALCULATE PREDICTED ADULT HEIGHT AND HEIGHT SD SCORE PREDICTED ADULT HEIGHT IS <150 CM IN GIRLS AND 160 CM IN BOYS HEIGHT SD SCORE < -2.25 GH STIMULATION TEST STIMULATED GH >10NG/ML CONSIDER GH AS PER ISS INDICATION STIMULATED GH <10NG/ML FAMILIAL GHD GROWTH VELOCITY <25TH CENTILE EVALUATE FOR ASSOCIATED PROBLEM
- 40. MANAGEMENT • COUNSELLING OF PARENTS • DIETRY ADVICE • LIMB LENGTHENING PROCEDURE • LEVOTHYROXIN • S/C GH THERAPY
- 41. GROWTH HORMONE • IN CHILDREN GHD IS DIAGNOSED ON AUXOLOGY,CLINICAL FEATURES AND BIOCHEMICAL PARAMETERS OF THE GROWTH HORMONE GH-IGF1 AXIS.IT MAY PRESENT AS AN ISOLATED DISORDER OR IN COMBINATION WITH OTHER PITUTARY HORMONE DEFICIENCY.DUE TO EPISODIC SECRETION OF GH,BESIDES CIRCARDIAN RHYTHM AND WIDE INTRA AND INTERINDIVIDUAL VARIATION IN GH LEVELS,MEASUREMENT OF SINGLE GH VALUE IS OF POOR DIAGNOSTIC VALUE.HENCE MANY PROVOCATION TEST HAS BEEN EVALUATED
- 42. • INDICATION • ON HISTORY-IN NEW BORN PERIOD HISTORY OF HYPOGLYCEMIA,PROLONGED JAUNDICE,MICROPHALLUS,BREECH PRESENTATION,TRAUMATIC DELIVERY • CRANIAL IRRADIATION,TUMOR • HEAD TRAUMA,CNS INFECTION • CRANIOFACIAL MEDLINE ABNORMALITY • CONSANGUINITY AND OR AFFECTED FAMILY MEMBER • SIGN OF MULTIPLE PITUTARY HORMONR DEFICIENCY
- 43. • AUXOLOGICAL ABNORMALITY— • SEVERE SHORT STATURE • HEIGHT MORE THAN 2SD BELOW MEAN AND A HEIGHT VELOCITY MORE THAN 1 SD FOR CHRONOLOGICAL OBSERVED OVER 1 YEAR • IN THE ABSCENCE OF SHORT STATURE,A HEIGHT VELOCITY OF MORE THAN 2SD BELOW MEAN FOR OVER 1 YEAR OR MORE THAN 1.5 SD BELOW MEAN SUSTAINED OVER 2 YEARS
- 44. • ABNORMAL SCREENING TEST • WHEN OTHER CAUSES OF LOW IGF-1 LIKE MALNUTRITION AND HYPOPROTEINEMIA ARE EXCLUDED
- 45. • PREPARATION AND PRECAUTION • 1.EVALUATION OF GHD SHOULD NOT BE INITIATED UNTIL OTHER CAUSES OF SHORT STATURE ARE RULED OUT • 2.THYROID FUNCTION SHOULD BE NORMAL • FASTING OVER NIGHT OR ATLEAST 8 HOUR PRIOR TO THE TEST • 4.BLOOD GLUCOSE SHOULD BE MONITOR • 5.SEX STEROID PRIMING IF BONE AGE ABOVE 10 YEARS-GIVE 20 MICROGRAM ETHINYL ESTRadiol daily in evening for 3 days and do test on 4th day
- 46. GH STIM TEST STIMULUS DOSAGE SAMPLING FOR HGH REMARK ACCURACY INSULIN -IV 0.05-0.1 U/KG IV - 30.0.15.30,45,60, 90,120 SEVERE HYPOGLYCEMIA 85% AT CUT OFF 10NG/ML CLONIDINE-ORAL 0.15 MICROGRAM/(M )2 - 30.0.15.30,45,60, 90,120 DROWSINESS,HY POTENSION 80%AT CUT OFF 10 NG/ML ARGININE 10%IV 0.5 GM/KG IN .9% NACL - 30.0.15.30,45,60, 90,120 LATE HYPOGLYCEMIA 75%AT CUT OFF 10 NG/ML L-DOPA -PO <10 KG-125 MG 10-35 KG-250 MG >35 KG-500 MG - 30.0.15.30,45,60, 90,120 NAUSEA,VOMITI NG,HEADACHE 80% AT CUTOOF 6 NG/ML GLUCAGON-IM OR SC 0.1 MICROGM/KG IM 0,60,90,120,150, 180 NAUSEA,VOMITI NG,LATE HYPOGLYCEMIA
- 47. • INTERPRETATION • Peak gh response >10ng/ml exclude the diagnosis of ghd • Elevated basal and stimulated levvel of gh is suggestive of gh insensitivity • Gh neurosecretory dysfunction is suspected in the presence of normal gh response with low igf-1
- 48. GH THERAPY GH recombinant human gh 0.05 mg/kg/day or 0.15 unit/kg/day till skeletal maturity achieved or growth velocity drop to <2cm/year
- 49. INDICATION OF GH THERAPY • GROWTH HORMONE DEFICIENCY • TURNER SYNDROME • SHOX HAPLOINSUFFICIENCY • SGA WITH FAILURE TO CATCH UP • CHRONIC RENAL FAILURE • PRADER WILLI • IDIOPATHIC SHORT STATURE
- 50. SIDE EFFECT OF GH THERAPY • PSEUDOTUMOR CEREBRI • SLIPPED CAPITAL FEMORAL EPIPHYSIS • HYPER GLYCEMIA • HYPOTHYROIDISM • ACUTE PANCREATITIS • RISK OF MALIGNANCY • OEDEMA-CARPAL TUNNEL SYNDROME • GYNECOMASTIA • WORSENING OF SCOLIOSIS • THERE IS AN INCREASE IN TOTAL BODY WATER DURING FIRST TWO WEEK OF TREATMENT • RISK OF CRUETZFELDT JACOB SYNDROME AFTER 20 YEAR OF THERAPY • THE DEVELOPMENT OF ANTIBODY • COST OF RX- 2 LAKH PER YEAR