Short stature
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Short StatureA diagnostic approach
By / Ahmed Mo'ness
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1 - Is this child short ?
2 - Does he have a "disease" ?
4 - Causes of Short Stature ?
3 - What Investigations to do ?
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Is this child short ?
Definition
Height below 3rd percentile (on growth chart) for the same chronolgical age and sex
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1- MeasureBelow 2 years = Length
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1- Measure
Above 2 years = Height
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2- Plot on Height for age & sex chart
X
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Proportionate ?Upper segment : Lower segment
** (substract lower segment from total height)
At birth = 1.7 : 1At 3 years = 1.3 : 1At Puberty = 1 : 1
Most common causes of DSS
- Achondroplasia
- Rickets
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Don't forget the WEIGHT !
X
X
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Does he have a disease ?
1- Midparental height
Boy = (Father + Mother + 13) / 2
Girl = (Father + Mother - 13) / 2
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Does he have a disease ?Does he have a disease ?
1- Midparental height
Normal = 8.5cm above and below
Abnormal = > 8.5cm below that height
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Expected / Projected height
Continue on the same channel to age 18 ythen compare to Midparental height
X
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Height velocity
Normal = Familial or Constitutional
Abnormal = Pathological
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Height velocity
At birth = 50 cm
1yr = 25 cm per year (75cm)
2yr = 15 cm per year (90cm)
3yr = 5 cm per year (95cm)
4yr to Puberty = 5 cm per year
-- nadir --
Pubery = girls ~ 10 & boys ~ 13
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Does he have a disease ?
1- Midparental height
2- Bone Age
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2- Bone Age
Helps to determine whether the child's
growth is delayed or accelerated compared
to his/her "chronological" age
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Methods (based on left hand & wrist x-ray) :
Greulich and Pyle
Tanner Whitehouse
2- Bone Age
If 18-22 y
CT medial end of clavicle
Boneage.co.uk
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BA = CAFamilial ...... or .... Genetic / Endocrinal
BA < CAConstitutional ...... or .... Chronic dse / Endocrinal
BA > CAObesity ...... or .... Prec. Pubery / Premature closure of
epiphysis / Hyperthyroidism / CAH
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3 - Causes of Short Stature
1- Familial
2 - Constitutional
4 - Endocrial
5 - Cogenital
6 - Chronic disease
3 - Metabolic
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MetabolicDM type 1Rickets (DSS)
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EndocrinalHypopitutirismHypothyroidismHypogonadismGH deficiencyCog. Adr. Hyperplasia (CAH)Craniopharyngioma
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CogenitalDown $Noonan $Russel-Silver $Turner $Prader-Willi $Achondroplesia (DSS)
Bartter $ / RTA
Desmorphic Features
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Chronic diseaseChronic diseaseIBDCFCancerHIV
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InvestigationsInvestigations1- General2- Focused
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1- General Investigations1- General Investigations
CBC : anemia/ infectionESR : chronic infl. dseLFT : liver disfunctionUrine Analysis : renal diseases
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2- Focused Investigations2- Focused Investigations
DM type 1Rickets
s. Glucose, IGF-125-hydroxyvitamin D, 1,25-dihydroxyvitamin D, parathyroid hormone, ALK-P, X-Ray wrist
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2- Focused Investigations2- Focused Investigations
HypothyroidismHypogonadismGH deficiencyCog. Adr. Hyperplasia (CAH)CraniopharyngiomaHypopitutirism
TSH , free T4(FSH, LH, Estradiol / Testosterone)IGF-I , IGF-binding protein 3Midnight serum cortisolCT, MRI, LabsTSH, (FSH, LH, Estradiol / Testosterone) , ACTH, Prolactin
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2- Focused Investigations2- Focused Investigations
IBDCFCancerHIV
Celiac antibodys, EndoscopySweat ChlorideESR, Tumer markers, PathologySerological tests
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2- Focused Investigations2- Focused Investigations
Iron deficiecyRickets
S. Ferretin, TIBCVit D, parathyroid hormone, ALK-P
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2- Focused Investigations2- Focused Investigations
Down $Turner
Karyotyping
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Don’t Forget :
Idiopathic Short Stature (ISS)** (by exclusion)
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Summary
1. Have a good history & examination
2. Measure & Plot (Weight, Height, Proportions)
3. Midparental Height
4. Bone age
5. Ask for Investigations general & focused according to the suspected medical condition
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Thanks