an approach to short stature in children td
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APPROACH TO SHORT STATURE IN CHILDRENTRANSCRIPT
AN APPROACH TO SHORT AN APPROACH TO SHORT STATURESTATURE
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CASE PRESENTATIONCASE PRESENTATION 11 year old girl from Kottagudem11 year old girl from Kottagudem Presented in 1997 at 5yrs oldPresented in 1997 at 5yrs old Global delay, short stature, obesityGlobal delay, short stature, obesity
Birth history: Mom 39, breech delivery, Birth history: Mom 39, breech delivery, BW 2080gBW 2080g Good Apgars Good Apgars Bilateral clubbed feet Bilateral clubbed feet
Returned after discharge due to floppiness and Returned after discharge due to floppiness and poor feedingpoor feeding
Meningitis at 2 yrs Meningitis at 2 yrs
CASE PRESENTATIONCASE PRESENTATION
Examination at 5 yearsExamination at 5 years - Obese Wt 17.5kg 50- Obese Wt 17.5kg 50thth centile centile - Ht 90cm <3- Ht 90cm <3rdrd centile centile - No pigmentation and no striae- No pigmentation and no striae - Tapered fingers- Tapered fingers - No bitemporal narrowness- No bitemporal narrowness - Systolic BP 75- Systolic BP 75 - Rest of examination normal- Rest of examination normal
CASE PRESENTATIONCASE PRESENTATION
INVESTIGATIONSINVESTIGATIONS - U/S pelvis: Normal uterus and ovaries- U/S pelvis: Normal uterus and ovaries - TSH 3.33, Free T4 16.8 (normal)- TSH 3.33, Free T4 16.8 (normal) - Testosterone <2 nmol/l, DHEAS <0.4 - Testosterone <2 nmol/l, DHEAS <0.4
umol/l, 17 OHProg 2 umol/l (normal)umol/l, 17 OHProg 2 umol/l (normal) --
CASE PRESENTATIONCASE PRESENTATION
INVESTIGATIONS (continued)INVESTIGATIONS (continued) - 8am serum cortisol 623 nmol/l - N- 8am serum cortisol 623 nmol/l - N midnight cortisol 345 – raisedmidnight cortisol 345 – raised - MRI pituitary microadenoma- MRI pituitary microadenoma - Lost to follow-up before a dexamethasone - Lost to follow-up before a dexamethasone
suppression test could be donesuppression test could be done
CASE PRESENTATIONCASE PRESENTATION
Provisional diagnosis: PRADER- WILLI Provisional diagnosis: PRADER- WILLI SYNDROMESYNDROME
CASE PRESENTATIONCASE PRESENTATION
Presented again at age 11 yearsPresented again at age 11 years Ht 116cm << 3Ht 116cm << 3rdrd centile centile Wt 41kg 50Wt 41kg 50thth centile , centile , HC 51 cm (microcephalic)HC 51 cm (microcephalic) Functioning at the level of 3-4 yr oldFunctioning at the level of 3-4 yr old
CASE PRESENTATIONCASE PRESENTATION
INVESTIGATIONSINVESTIGATIONS - Bone age 10 yrs , not osteopenic- Bone age 10 yrs , not osteopenic - TSH 1.93, T4 18.8 – N- TSH 1.93, T4 18.8 – N - Glucose 4.2- Glucose 4.2 - MRI – Normal- MRI – Normal - Clonidine stimulation test- Clonidine stimulation test -15 0 15min 30 45 75 120-15 0 15min 30 45 75 120 0.9 <0.9 1.5 1.1 <0.9 <0.9 1.20.9 <0.9 1.5 1.1 <0.9 <0.9 1.2
CASE PRESENTATIONCASE PRESENTATION
CONCLUSION:CONCLUSION:
Probably Prader-Willi Syndrome with Probably Prader-Willi Syndrome with growth hormone deficiency growth hormone deficiency
How do you define short stature How do you define short stature in a child?in a child?
DEFINITIONDEFINITION
A child whose height is below 2 standard A child whose height is below 2 standard deviations for age and genderdeviations for age and gender
What are the causes of short What are the causes of short stature?stature?
CAUSES OF SHORT STATURE 1CAUSES OF SHORT STATURE 1
VARIATIONS OF NORMALVARIATIONS OF NORMAL - Constitutional delay- Constitutional delay - Familial short stature- Familial short stature
CAUSES OF SHORT STATURE 2CAUSES OF SHORT STATURE 2
CHRONIC DISEASECHRONIC DISEASE MALNUTRITIONMALNUTRITION Intra-uterine growth retardationIntra-uterine growth retardation
CAUSES OF SHORT STATURE 3CAUSES OF SHORT STATURE 3
ENDOCRINE DISORDERS:ENDOCRINE DISORDERS: - - Growth hormone deficiencyGrowth hormone deficiency 1. Congenital malformations of 1. Congenital malformations of
hypothalamus and pituitaryhypothalamus and pituitary 2. Genetically determined disturbances2. Genetically determined disturbances 3. Tumors3. Tumors 4. Chronic inflammation4. Chronic inflammation 5. Idiopathic5. Idiopathic 6. Following radiotherapy and chemotherapy for 6. Following radiotherapy and chemotherapy for
neoplastic diseaseneoplastic disease
CAUSES OF SHORT STATURE 3CAUSES OF SHORT STATURE 3
ENDOCRINE DISORDERS:ENDOCRINE DISORDERS: - Hypothyroidism- Hypothyroidism - Glucocorticoid excess- Glucocorticoid excess endogenous or exogenousendogenous or exogenous - Diabetes mellitus under poor control- Diabetes mellitus under poor control - Diabetes insipidus – untreated- Diabetes insipidus – untreated - Hypophosphatemic Vit-D- resistant rickets - Hypophosphatemic Vit-D- resistant rickets
CAUSES OF SHORT STATURE 4CAUSES OF SHORT STATURE 4
SKELETAL DYSPLASIASKELETAL DYSPLASIA - Osteogenesis imperfecta- Osteogenesis imperfecta - Osteochondroplasias- Osteochondroplasias
LYSOSOMAL STORAGE DISEASESLYSOSOMAL STORAGE DISEASES - Mucopolysaccharidoses- Mucopolysaccharidoses - Mucolipidoses- Mucolipidoses
CAUSES OF SHORT STATURE 5CAUSES OF SHORT STATURE 5
SYNDROMES OF SHORT STATURESYNDROMES OF SHORT STATURE - Turner Syndrome- Turner Syndrome - Noonan Syndrome- Noonan Syndrome - Trisomy 13,18,21- Trisomy 13,18,21 - Prader-Willi Syndrome- Prader-Willi Syndrome - Autosomal abnormalities- Autosomal abnormalities
How do you allow for parents’ How do you allow for parents’ height?height?
Calculate mid-parent height:Calculate mid-parent height:
Boys: father’s height + (mother’s height + 13)]/ Boys: father’s height + (mother’s height + 13)]/
2 (+/- 7.5cm)2 (+/- 7.5cm)Girls: (father’s height – 13) + mother’s height/ Girls: (father’s height – 13) + mother’s height/
2 (+/- 6cm_ 2 (+/- 6cm_
EVALUATIONEVALUATION
DETAILED HISTORY DETAILED HISTORY - date of onset- date of onset - birth history- birth history - past medical and surgical history- past medical and surgical history - systemic enquiry- systemic enquiry - developmental history- developmental history - family and social history- family and social history - nutritional history- nutritional history - allergies- allergies
EVALUATIONEVALUATION
EXAMINATIONEXAMINATIONRespiratory SystemRespiratory System - chest deformities- chest deformities - signs of chronic lung disease e.g. cystic fibrosis, - signs of chronic lung disease e.g. cystic fibrosis,
asthmaasthmaCardiovascular SystemCardiovascular System - signs of congenital heart disease- signs of congenital heart disease - hypertension- hypertension - signs of cardiac failure- signs of cardiac failure
EVALUATIONEVALUATION
EXAMINATIONEXAMINATIONAbdomenAbdomen - hepatomegaly- hepatomegaly - splenomegaly- splenomegaly - masses- masses - ascites- ascitesRenal Renal - urine output- urine output
EVALUATIONEVALUATION
EXAMINATIONEXAMINATIONCNSCNS - visual acuity and visual fields- visual acuity and visual fields - nystagmus- nystagmus - signs of hydrocephalus- signs of hydrocephalus - focal signs- focal signs
INVESTIGATIONSINVESTIGATIONS
FBCFBC - anemia- anemia - leucocytosis- leucocytosis - leucopenia- leucopenia - thrombocytopenia- thrombocytopenia ESR, CRPESR, CRP Electrolytes and liver enzymesElectrolytes and liver enzymes Carotene, folate, prothrombin timeCarotene, folate, prothrombin time Celiac panelCeliac panel
INVESTIGATIONSINVESTIGATIONS
Urinalysis and pHUrinalysis and pH KaryotypeKaryotype Cranial imaging- MRICranial imaging- MRI Bone ageBone age IGF 1, IGF BP3IGF 1, IGF BP3 Free thyroxineFree thyroxine ProlactinProlactin Growth hormone stimulation testsGrowth hormone stimulation tests
APPROACH TO SHORT STATUREAPPROACH TO SHORT STATURECHARACTERISTICS
HEIGHT VELOCITY > 0 SDHEIGHT > -2 SD
HEIGHT VELOCITY > -1 TO 0 SDHEIGHT > -2 TO – 2.5 SD
HEIGHT VELOCITY < -1 SDHEIGHT < 2.5 SD
PROBABLY NORMALCLOSE OBSERVATION
WORK UP FOR OTHER CAUSES
TESTS FOR HYPOTHYROIDISM, MALNUTRITION,CHROMOSOMAL,SYSTEMIC DISEASE
IF NEGATIVE
IF POSITIVE
SPECIFIC TREATMENT
IGF-1 AND IGFBP-3
IF LOWGHPB, BASAL GH
IF NORMALL CLOSE OBSERVATION
IF ABNORMAL
GH INSENSITIVITYSYNDROME
IGF-1 TREATMENT
IF NORMAL
PEAK >10 NG/MLGH AXIS DYSFUNCTION
ISS
CONTINUED OBSCONSIDER GH RX
PEAK < 10 NG/ML
CLASSIC GHDEFICIENCY
GH TREATMENT
MANAGEMENTMANAGEMENT
OPTIMISE TREATMENT OF CHRONIC OPTIMISE TREATMENT OF CHRONIC DISEASESDISEASES
ENSURE GOOD NUTRITION AND NOT ENSURE GOOD NUTRITION AND NOT OVERNUTRTIONOVERNUTRTION
APPROPRIATE THERAPY FOR TUMOURSAPPROPRIATE THERAPY FOR TUMOURS REPLACEMENT THERAPY FOR REPLACEMENT THERAPY FOR
DEFICIENCY SYNDROMESDEFICIENCY SYNDROMES
REFERENCESREFERENCES
Bierich J.R. (1992) Growth disorders. Clinical Bierich J.R. (1992) Growth disorders. Clinical Endocrinology and Metabolism 491-523Endocrinology and Metabolism 491-523
Luo Z.C. (1998) Target height as predicted by Luo Z.C. (1998) Target height as predicted by parental heights in a population-based study. parental heights in a population-based study. Pediatr Res Oct;44(4): 563-71Pediatr Res Oct;44(4): 563-71
Espo M. (2002) Determinants of linear growth Espo M. (2002) Determinants of linear growth and predictors of severe stunting during infancy and predictors of severe stunting during infancy in rural Malawi. Acta Paediatr; 91 (12): 1364-70in rural Malawi. Acta Paediatr; 91 (12): 1364-70
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