an approach to short stature in children td

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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