Short StatureA diagnostic approach

By / Ahmed Mo'ness

1 - Is this child short ?

2 - Does he have a "disease" ?

4 - Causes of Short Stature ?

3 - What Investigations to do ?

Is this child short ?

Definition

Height below 3rd percentile (on growth chart) for the same chronolgical age and sex

1- MeasureBelow 2 years = Length

1- Measure

Above 2 years = Height

2- Plot on Height for age & sex chart

X

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

Don't forget the WEIGHT !

X

X

Does he have a disease ?

1- Midparental height

Boy = (Father + Mother + 13) / 2

Girl = (Father + Mother - 13) / 2

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

Expected / Projected height

Continue on the same channel to age 18 ythen compare to Midparental height

X

Height velocity

Normal = Familial or Constitutional

Abnormal = Pathological

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

Does he have a disease ?

1- Midparental height

2- Bone Age

2- Bone Age

Helps to determine whether the child's

growth is delayed or accelerated compared

to his/her "chronological" age

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

BA = CAFamilial ...... or .... Genetic / Endocrinal

BA < CAConstitutional ...... or .... Chronic dse / Endocrinal

BA > CAObesity ...... or .... Prec. Pubery / Premature closure of

epiphysis / Hyperthyroidism / CAH

3 - Causes of Short Stature

1- Familial

2 - Constitutional

4 - Endocrial

5 - Cogenital

6 - Chronic disease

3 - Metabolic

MetabolicDM type 1Rickets (DSS)

EndocrinalHypopitutirismHypothyroidismHypogonadismGH deficiencyCog. Adr. Hyperplasia (CAH)Craniopharyngioma

CogenitalDown $Noonan $Russel-Silver $Turner $Prader-Willi $Achondroplesia (DSS)

Bartter $ / RTA

Desmorphic Features

Chronic diseaseChronic diseaseIBDCFCancerHIV

InvestigationsInvestigations1- General2- Focused

1- General Investigations1- General Investigations

CBC : anemia/ infectionESR : chronic infl. dseLFT : liver disfunctionUrine Analysis : renal diseases

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

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

2- Focused Investigations2- Focused Investigations

IBDCFCancerHIV

Celiac antibodys, EndoscopySweat ChlorideESR, Tumer markers, PathologySerological tests

2- Focused Investigations2- Focused Investigations

Iron deficiecyRickets

S. Ferretin, TIBCVit D, parathyroid hormone, ALK-P

2- Focused Investigations2- Focused Investigations

Down $Turner

Karyotyping

Don’t Forget :

Idiopathic Short Stature (ISS)** (by exclusion)

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

Thanks