Short Stature Remastered.pptx by rdcr crc vgybfvdcfgvfdcfvg rdcfgvfcdc

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1. SHORT STATURE NANDINI  SAHA                                                         REG :122016101082 NANDINI SAHA                 REG :122016101082

2. DEFINITION: HEIGHT BELOW 3 RD PERCENTILE OR LESS THAN STANDARD DEVIATIONS BELOW THE MEDIAN HEIGHT FOR THE AGE AND SEX ACCORDING TO THE POPULATION STANDARD OR EVEN IF THE HEIGHT IS WITHIN THE NORMAL PERCENTILES BUT GROWTH VELOCITY IS CONSISTENTLY BELOW 25 TH PERCENTILE OVER 6-12 MONTHS THE TERM DWARFISM IS NO LONGER USED FOR SHORT STATURE. APPROXIMATELY 3% CHILDREN IN ANY POPULATION WILL BE SHORT STATURE.

3. CAUSES OF SHORT STATURE: A. PROPORTIONATE SHORT STATURE 1. NORMAL VARIANTS: I. FAMILIAL II. CONSTITUTIONAL GROWTH DELAY 2. PRENATAL CAUSES : I. INTRAUTERINE GROWTH RESTRICTION II. INTRAUTERINE INFECTIONS III. GENETIC DISORDERS

4. 3. POST NATAL CAUSES: I. UNDERNUTRITION II. CHRONIC SYSTEMIC ILLNESS: - CARDIOPULMONARY : CHD, CHRONIC ASTHMA, CYSTIC FIBROSIS. - RENAL – RTA, CRF, STEROID DEPENDENT NEPHROTIC SYNDROME GI AND HEPATIC : MALABSORPTION ,IBD, CHRONIC LIVER DISEASE. CHRONIC SEVERE INFECTIONS HAEMATOLOGICAL : THALASSEMIA, SICKLE CELL ANEMIA III. PSYCHOSOCIAL SHORT STATURE ( EMOTIONAL DEPRIVATION) IV. ENDOCRINE CAUSES: GROWTH DELAY, HYPOTHYROIDISM, JUVENILE DIABETES MELLITUS, CUSHING SYNDROME, PSEDOHYPOTHYROIDISM, PRECOCIOUS PUBERTY.

5. B. DISPROPORTIONATE SHORT STATURE 1. WITH SHORT LIMBS: - ACHONDROPLASIA, HYPOCHONDROPLASIA, CHONDRODYSPLASIA PUNCTATA, CHONDROECTODERMAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA - DEFORMITIES DUE TO OSTEOGENESIS IMPERFECTA. 2. WITH SHORT TRUNK: - SPONDYLOEPIPHYSEAL DYSPLASIA, MUCOLIPIDOSIS, MUCCOPOLYSACCHARODOSIS - CARIES SPINE, HEMIVERTEBRAE.

6. Comparison: Feature F a m ili a l S ho r t St a t u r e C on s t i t u t ion a l S ho r t St a t u r e 1) Sex B o th e q u all y a f f ec t ed More common in boys 2) Length at Birth Normal N o r m a l ( s t a r ts f alli n g < 5 th c e n t i l e i n 1 s t 3 y r s o f li f e) 3 ) F a m il y H i s t o r y Of short stature O f d e la y ed pub e r ty 4) Parents Stature Short (one or both) Average 5) Height Velocity Normal Normal 6) Puberty Normal Delayed 7) Bone Age & Chronological Age BA = CA > Height Age CA > BA = Height Age 8) Final Height Short, but normal for target height Normal

7. INTRA UTERINE GROWTH REDUCTION: ARREST OF FETAL GROWTH IN EARLY EMBRYONIC LIFE CAUSES REDUCTION IN TOTAL NUMBER OF CELLS, LEADING TO DIMINISHED GROWTH POTENTIAL IN POSTNATAL LIFE. BW < 10 TH CENTILE FOR GESTATIONAL AGE MOST OF THESE BABIES SHOW CATCH –UP GROWTH BY 2YRS OF AGE, BUT 20-30% MAY REMAIN SHORT GROWTH VELOCITY IS NORMAL LEARNING DISABILITIES COULD BE PRESENT

8. GENETIC SYNDROMES: A. CHROMOSOMAL DISORDERS: - TURNER SYNDROME ( XO): - SHOULD BE RULED OUT EVEN IF TYPICAL PHENOTYPIC FEATURES TO BE PRESENT. - OTHERS EG: DOWN, NOOMAN, PRADER WILLI, SILVER – RUSSEL, SECKLE SYNDROME B. INBORN ERRORS OF METABOLISM - EG: GALACTOSEMIA, AMINOACIDURIA.

9. UNDER NUTRITION: ONE OF THE COMMONEST CAUSE OF SHORT STATURE IN INDIA PEM, ANEMIA , AND TRACE ELEMENT DEFECIENCY SUCH AS ZINC DEFICIENCIES ARE COMMON CAUSES WEIGHT GAIN IS SLOW AND MUSCLES ARE WASTED. LONG STANDING MALNUTRITION LEADS TO STUNTING DIAGNOSIS: GOOD DIETARY HISTORY , ANTHROPOMETRIC MEASUREMENTS.

10. CHRONIC SYSTEMIC ILLNESSES: 1. CHRONIC INFECTIONS: TB, MALARIA, LEISHMANIASIS - GROWTH RETARDATION IS DUE TO IMPAIRED APPETITE, DECREASED FOOD INTAKE, INCREASED CATABOLISM, POOR UTILISATION OF FOOD, VOMITING AND DIARRHOEA 2. MALABSORPTION SYNDROMES: EG: CHRONIC RECURRENT INFECTIVE DIARRHOEA , LACTOSE INTOLERANCE, CYSTIC FIBROSIS, CELIAC DISEASE , GIARDIASIS, COW’S MILK ALLERGY.

11. 3. BIRTH DEFECTS: CHD, URINARY TRACT AND NERVOUS SYSTEM ANOMALIES 4. MISCELLANEOUS: CIRRHOSIS OF LIVER, BRONCHIECTASIS, ACCQUIRED HEART DISEASE,S, CARDIOMYOPATHIES, SDH

12. ENDOCRINE CAUSES: 1. HUMAN GROWTH HORMONE DEFECIENCY - NORMAL LENGTH AND WEIGHT AT BIRTH - GROWTH DELAY SEEN > 1YR OF AGE, GROWTH VELOCITY < 4CM/YEAR BA < CA BY ATLEAST 2YRS. INFANTILE GONADAL DEVELOPMENT DELAY IN SSC NORMAL INTELLIGENCE DIAGNOSIS: hGH LEVELS, IN SLEEP AND AFTER PROVOCATION WUTH CLONIDINE, INSULIN, PROPANOL - hGH >10NG/ML EXCLUDES hGH DEFECIENCY 2. LARON ‘S SYNDROME 3. TYPE I DIABETES MELLITUS.

13. 4. Hypothyroidism S h o rt , s t oc k y c h i ld ; d u l l loo k i n g , p u f f y f a c e Thickened skin & subcutaneous tissue with myxomatous appearance, cold intolerance P r o t u b e r a n t a b d o m e n w i t h umbilical hernia Infantile sexual development & d e l ay e d p u b e r t y Bo n e a g e m a r k e d ly d e l a y e d - D i ag n o s i s - L o w T 4 l e v e l s , h i g h T SH l e v e ls

14. 5) Cushing syndrome: G r o w t h r e t a r da t ion ( e a r l y f e a t u r e ) O t h e r f e a t u r e s : Obesity, plethoric moon facies, a b d o mi n a l s tr i a e , h y p e r t e n s io n , d e c r e a s e d g l u c ose t o le r a n c e 6) G o n ada l d iso r d e r s : Adiposogenital dystrophy ( Frohlich syndrome) m o de r a t e g r o w t h r e t a r da t i o n , b o n e a g e n o r m a l or s l i g ht ly d e l a y e d - Precocious puberty: early fusion of epiphyseal centres

15. Psychological Short Stature: A k a : e m o ti o n a l d e p r i v a ti on dw a r f i s m , m a t e r n a l deprivation dwarfism, hyperphagic short stature Functional hypopituitarism- low IGF-1 levels & inadequate response to GH stimulation Type1- below 2 yrs., failure to thrive, no Gh deficiency Type2- in > 3 yrs. Other behavioural disorders: enuresis, encopresis, sleep & a pp e t i t e d i s t u r b a n c e s , c r y i n g s p a s m s , t a ntr u m s Dental eruptions & sexual development delayed

16. Skeletal Dysplasia: A k a c h o n d r o d y s p l a s i a s I n b o r n e r r or in f o rm a t ion of c o m p o n e nt s of s k e l e t a l s y s t e m causing disturbance of cartilage & bone Ab n o rm a l s k e l e t a l p r o p o rt io n s & severe short stature Diagnosis- f a m i l y h i s t o r y , m e a s u r e m e n t o f body proportions, examination of limbs & skulls, skeletal survey

17. Assessment Of a Child With Short Stature: 1) Accurate height measurement B e l o w 2 y r s. - s u p i n e l e n g t h w i t h 2) Infantometer F or o ld e r c h i l d r e n - S t a d i o m e t e r

18. 2 ) A s s es s m e n t o f b o d y p r o p o r t i o n  Upper segment: Lower segment ratio Increase: rickets, achondroplasia, untreated hypothyroidism Decrease: spondyloepiphyseal dysplasia, vertebral anomalies  C o m p a r i s on of a r m s p a n with height

19. 3. A s s es s m e n t o f h e i g h t v e l o c i t y Ra t e of i n c r ea s e i n h e i g h t ov e r a p e r i o d of t im e , e x p r e ss e d a s cm / y ea r If low – pathological cause of short stature 4. C o m p a r i s o n w i t h p o p u l a t i o n n o r m s H e i g h t p l o t t e d on a pp r o p r i a t e g r o w t h c h a rt s & e x p r e ss e d a s c e nt i l e or SD s c o r e

20. 5 ) C o m p a r i s o n w i t h c hi l d ’ s ow n ge n e t i c p o t e n t i a l M i d p a r e nt a l h e i g h t for b o y s = mother's height + father's height /2 + 6.5cm Mid parental height for girls = mother's height + father's height /2 – 6.5cm 6) S ex u a l m a tu r i t y r a t i n g ( S M R ) : A l s o k n o w n a s T a nn e r s s t a g e s U s e d in o ld e r c h i l d r e n Total 5 stages included in each gender

21. Diagnosis: D e t a i le d h i s t o r y Ca r e fu l e x a m i n a t ion L a b o r a t o r y e v a lu a t ion

22. Clues To Etiology From History History Etiology H i s t o r y o f d e l a y o f pub e r ty i n p a r e n ts C o n s t i t u t i o n a l d e l a y o f g r o w th Low Birth Weight SGA N e o n a t a l h y p o g l y c e m i a , j a und i c e, m i c r o p e ni s GH deficiency D i et a r y i n t a k e Under nutrition H e a d a c h e, v o m i t i n g , v i s u a l p r o b l em P i t u i t a r y / h y p o t h ala m i c S O L Let h a r g y , c o n s t i p a t i o n , w e i g h t g ai n Hypothyroidism Polyuria CRF, RTA Social history P s y c h o s o c ia l d w a rf i s m D ia rr h e a , g r e a s y s t o o l s Malabsorption

23. Pointers To Etiology Of Short Stature Pointer Etiology M i d li n e d e f ec t s , m i c r o p e ni s , F r o n t a l b o ss i n g , depressed nasal bridge, crowded teeth, GH deficiency Rickets Renal failure, RTA, malabsorption Pallor Renal failure, malabsorption, nutritional anemia Malnutrition PEM, malabsorption, celiac disease, cystic fibrosis Obesity H y p o t h y r o i d i s m , C u s h i n g s y nd r o m e, Pr a d er Willi syndrome M et a c a r p a l s h o r te n i n g T u r n er s y nd r o m e, p s e u d o h y p o p a r a t h y r o i d i s m C a r d ia c m u r m u r Congenital heart disease, Turner syndrome M e n t a l r et a r d a t i o n H y p o t h y r o i d i s m , D o w n / T u r n er s y nd r o m e, pseudohypoparathyroidism

24. Clues To Etiology From Examination E x a m in a t io n f indin g Etiology Disproportion S k e l et a l d y s p la s ia , r i c k et s , h y p o t h y r o i d i s m Dysmorphism C o n g e ni t a l s y nd r o m es Hypertension CRF Goitre, coarse skin Hypothyroidism C e n t r a l o b e s i t y , s t r ia e C u s h i n g s y nd r o m e

25. Investigation (Level 1 Investigations): C o m p l e t e h e m o g r am w i t h E S R BONE AGE Urinalysis ( Microscopy, pH, Osmolality) Stool ( parasites, steatorrhea, occult blood) B l o o d ( RF T , Cal c i u m, P h o s p h a t e , al k al i n e p h o s p h a t a s e , venous gas, fasting sugar, albumin, transaminases)

26. Bone Age(BA): Bo n e a g e a ss e ss m e n t s h o ul d b e d o n e i n a l l c h i ld r e n w i t h s h o r t s t a t u r e A pp e a r a n c e of v a r io u s e p i p h y s e a l c e n t e r s & f usi on of e p i p h y s e s w i t h m e t a p h y s e s t e lls a b o u t t h e s k e l e t a l m a t u r i t y of t h e c h i ld C o n v e nt io n all y r e a d f r om X- r a y of h a n d & w r is t usi n g Gru e l i ch - P y l e a t l a s or T a nn e r - W h i t e h ouse m e t h od

27. 1.Bone age gives an idea as to what proportion of adult height h a s b ee n a c h i e v e d b y t h e c h i ld & w h a t is r e m a i n i n g p o t e nt i a l for height gain 2. B A is d e l ay e d c o m p a r e d t o c h r o n o l o g i c a l a g e in al m o s t al l c a us e s of s h o r t s t a t u r e 3. Exceptions: Familial short stature, Precocious puberty

28. (Level 2 Investigations): Serum thyroxine, TSH K a r y o t y p e t o r u l e o u t T u rn e r s y n d r o m e in g i r l s I f a b ov e i n v e s t i g a t io n s a r e n o rm a l a n d h e i g h t b e tw ee n - 2 t o - 3 S D - O b s e r v e h e i g h t v e loci t y for 6 - 12 m o n t h s If height < 3SD- level 3 investigations (Level 3 Investigations): Celiac serology ( anti- endomysial or anti- tissue t r a n s gl u t a m i n a s e a nt i b o d i e s ) Duodenal biopsy G H s t i m u la t ion t e s t w i t h Cl o n i d i n e or i n s u l in & s e r um insulin like GF-1 levels

29. Management: C o u n s e ll i n g of p a r e nt s ( for p h y si o lo g ic a l c a us e s ) D i e t a r y a dv i c e ( U n de r n u t r i t i o n , Ce l i a c d is e a s e , R T A ) Limb lengthening procedures ( s k e l e t a l dy s p l a si a s ) Levothyroxine ( In Hypothyroidism) GH s/c injections ( GH deficiency, Turner syndrome, SGA, CRF prior to transplant) Monitoring with regular & accurate recording of height is mandatory for a good outcome in any form of therapy

30. Thank you