A Clinical approach to diagnosis of a case with short stature

1. Short Stature
A diagnostic approach
By / Ahmed Mo'ness

2. 1 - Is this child short ?
2 - Does he have a "disease" ?
4 - Causes of Short Stature ?
3 - What Investigations to do ?

3. Is this child short ?
Definition
Height below 3rd percentile
(on growth chart) for the
same chronolgical age and
sex

4. 1- Measure
Below 2 years = Length

5. 1- Measure
Above 2 years = Height

6. 2- Plot
on Height for age & sex chart
X

7. Proportionate ?
Upper segment : Lower segment
** (substract lower segment from total height)
At birth = 1.7 : 1
At 3 years = 1.3 : 1
At Puberty = 1 : 1

8. Don't forget the WEIGHT !
X
X

9. Does he have a disease ?
1- Midparental height
Boy = (Father + Mother + 13) / 2
Girl = (Father + Mother - 13) / 2

10. Does he have a disease ?
1- Midparental height
Normal = 8.5cm above and below
Abnormal = > 8.5cm below that height

11. Expected / Projected height
Continue on the same channel to age 18 y
then compare to Midparental height
X

12. Height velocity
Normal = Familial or Constitutional
Abnormal = Pathological

13. 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

14. Does he have a disease ?
1- Midparental height
2- Bone Age

15. 2- Bone Age
Helps to determine whether the child's
growth is delayed or accelerated compared
to his/her "chronological" age

16. 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

17. BA = CA
Familial ...... or .... Genetic / Endocrinal
BA < CA
Constitutional ...... or .... Chronic dse / Endocrinal
BA > CA
Obesity ...... or .... Prec. Pubery / Premature closure of
epiphysis / Hyperthyroidism / CAH

18. 3 - Causes of Short Stature
1- Familial
2 - Constitutional
4 - Endocrial
5 - Cogenital
6 - Chronic disease
3 - Metabolic

19. Metabolic
DM type 1
Rickets (DSS)

20. Endocrinal
Hypopitutirism
Hypothyroidism
Hypogonadism
GH deficiency
Cog. Adr. Hyperplasia (CAH)
Craniopharyngioma

21. Cogenital
Down $
Noonan $
Russel-Silver $
Turner $
Prader-Willi $
Achondroplesia (DSS)
Bartter $ / RTA

22. Chronic disease
IBD
CF
Cancer
HIV

23. Investigations
1- General
2- Focused

24. 1- General Investigations
CBC : anemia/ infection
ESR : chronic infl. dse
LFT : liver disfunction
Urine Analysis : renal diseases

25. 2- Focused Investigations
DM type 1
Rickets
s. Glucose, IGF-1
25-hydroxyvitamin D, 1,25-
dihydroxyvitamin D, parathyroid
hormone, ALK-P, X-Ray wrist

26. 2- Focused Investigations
Hypothyroidism
Hypogonadism
GH deficiency
Cog. Adr. Hyperplasia (CAH)
Craniopharyngioma
Hypopitutirism
TSH , free T4
(FSH, LH, Estradiol / Testosterone)
IGF-I , IGF-binding protein 3
Midnight serum cortisol
CT, MRI, Labs
TSH, (FSH, LH, Estradiol /
Testosterone) , ACTH, Prolactin

27. 2- Focused Investigations
IBD
CF
Cancer
HIV
Celiac antibodys, Endoscopy
Sweat Chloride
ESR, Tumer markers, Pathology
Serological tests

28. 2- Focused Investigations
Iron deficiecy
Rickets
S. Ferretin, TIBC
Vit D, parathyroid hormone, ALK-P

29. 2- Focused Investigations
Down $
Turner
Karyotyping

30. Don’t Forget :
Idiopathic Short Stature (ISS)
** (by exclusion)

31. 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

32. Thanks