1. SHORT AND SWEET
REVIEW OF
SHORT STATURE
DR SHAILESH MEHTA
M.D. PEDIATRICS
PRACTICING PEDIATRICIAN
2.
3. STORY OF SANDEEP
• On regular follow up with you since birth
• Parents feel that at 4 yrs 10 months he is the
shortest in the class
• He never had any chronic illness
• His physical examinations have always been
normal
• He is a fussy eater but loves non-veg food
and weight is good for his age
4.
5. STORY OF SANDEEP
• Do we label him as “ short stature”
• Which Growth Charts do we follow?
• What more can be asked on history?
• What more can be done on examination?
6. Defining Short Stature
• Yes he has short stature as height is less than
2 S.D. from the mean for same age and sex
• Above 5 yrs IAP 2015 Charts should be
followed.
• Below 5 yrs the W.H.O 2006 charts should be
followed
7. History of-
• IUGR /SGA
• Recurrent hypoglycemia or prolonged
jaundice
• Meconium ileus or feeding difficulties
( cystic fibrosis, genetic synd)
• Head trauma /irradiation
• Medicines for ADHD
• Steroid use
• Any chronic illness
• Late bloomers in family/parents
8. Examination
• Measure standing height at 2yrs plus age
(Leicester scale Stadiometer)
Measure supine length by infantometer if age
less than 2 years
• Upper to lower segment ratio
• Dysmorphism
• Genitalia
• SMR
• Look for markers of any endocrinal disturbance.
• Measure height of both parents
9. MEASURE GENETIC POTENTIAL
MEAN PARENTAL HEIGHT = MPH
FH= FATHER’S HEIGHT in cm
MH= MOTHER’S HEIGHT in cm
MPH (BOYS)=( FH+ MH+13)/2
MPH (GIRLS)=(FH-13+MH)/2
PLOT MPH on the IAP chart at 18yrs mark.
Correlate child’s percentile curve with
parents
-
10.
11. STORY OF SANDEEP
• Sandeep is short but parents have average
Indian height
• Since there is nothing significant on history
and examination, we proceed with
investigations
• Hemogram, PBF, SERFT, LFT, 25OHD, S.IgA,
TTG IgA, urine routine
X Ray for bone age
12. STORY OF SANDEEP
• To our disgust, all tests are normal
• What is the diagnosis of Sandeep.?
• Do we still need further tests ?
• Do we succumb to the parental pressure and
write some growth tonics?
13. STORY OF SANDEEP
• He is referred to A HIGHER CENTRE
• He is advised endocrinological tests
GH LEVELS- NORMAL
T3/T4/TSH- NORMAL
24 hours urine cortisol normal
Adv follow up every 6 months for height
velocity
• He is written some tonic, given diet chart and
ask to follow up for height monitoring
14. Story of Sandeep
• His parents become hopeless
• They fall prey to TV ads and resort to
alternative medicine
• At 12 yrs Sandeep again happens to meet you
in the OPD
• He has signs of puberty,
SMR consistent with age ,
has good weight but height is 133cm
(3rd percentile for age)
15. STORY OF SANDEEP
• You refer him to a endocrinologist
• THE ENDOCRINOLOGIST LABELS HIM AS
“IDIOPATHIC SHORT STATURE” BECAUSE
- HIS ENDOCRINE WORK UP IS INCONCLUSIVE
- HE HAS NO DYSMORPHISM OR FAMILIAL
SHORT STATURE
- HE HAS NO HISTORY OF MALNUTRITION OR A
CHRONIC DISEASE
- HIS SYSTEMIC EXAMINATION IS NORMAL
- HIS BONE AGE MATURITY EQUALS
CHRONOLOGICAL AGE
16. Story of Sandeep
• ADDITIONAL TESTS ARE-
Free T4, TSH, IGF-1, IGF-BP3, XRAY BONE AGE
ALL COME NORMAL
“Remember always that Idiopathic Short
Stature is a diagnosis of exclusion”
17. NOT A HAPPY ENDING
• At 12 yrs age, the endocrinologist starts rHGH
therapy.
• Gives very little hope to the parents
• Says that they are already too late.
18. Where did we falter?
• We OFTEN REFER without a working
diagnosis
• We sometimes lack empathy towards the
parental concerns and OFTEN DO NOT
ADDRESS THEIR CONCERNS , ESPECIALLY
WHEN REPORTS ARE NORMAL
• Very often the radiologists are not aware of
newer guidelines in Pediatrics and the
radiologists are not sensitised sufficiently to
read pediatric xrays and reports.
19. POINT TO REMEMBER
• We need at least 5 years time
before the onset of puberty , for the
rHGH therapy to show optimal
results
• Normal GH levels do not mean that
HGH can not be used as a treatment
20. Story of Rashmi
• AGE 9YRS
• HEIGHT 118 CM less than 3rd percentile for
age
• WT 28 KG 50th percentile
• MPH 145 cm less than 3rd centile
• History and examination non contributory
• SMR consistent with age
• All tests normal
• Bone age = chronological age
24. Basic Investigations for all children
with SHORT STATURE
• Familial short stature is a subset of idiopathic
short stature
• Idiopathic short stature is actually due to
polygenic mutations which are not yet studied.
• Its is possible that , in familial short stature , the
parents are also having the same mutation as in
their child
• Hence , in Idiopathic short stature and familial
short stature , we should still investigate to pick
up treatable causes and seek endocrine
reference.
25. INVESTIGATIONS FOR SHORT
STATURE
• HEMOGRAM, PBF
• METABOLIC SCREEN, BIOCHEMISTRY PANEL
• FREE T4/ TSH (OFTEN MISSED)
• S.IgA , TTG –IgA
• IGF-1, IGF-BP3 (OFTEN MISSED)
• Urine routine
• XRAY – LEFT HAND FOR BONE AGE
• Other tests if warranted for dysmorphic and
syndromic identification and other
endocrinological disorders
26.
27. SUNNY KI KAHANI
• WT 41KG AT 13 YRS- NEARLY 50TH CENTILE
• HT 137 CM – LESS THAN 3RD CENTILE
• MPH BETWEEN 10TH AND 25TH PERCENTILE
• WHAT IS IT?
• HIS OLD RECORDS REVEAL THAT HIS HEIGHT
HAS ALWAYS BEEN BETWEEN 10TH AND 25TH
PERCENTILE TILL 8 YRS
• ONE SINGLE INVESTIGATION AND ONE
CLINICAL FINDING, CLINCH THE DIAGNOSIS!
28.
29. CONSTITUTIONAL DELAY OF GROWTH
AND PUBERTY- CDGP
• X ray left hand for bone age
Bone age less than chronological age
(REF: Greulich and Pyle Atlas)
• Delayed pubertal changes
• One or both parents or a sibling also reveal
that they too attained puberty after 14 years
of age
30. DIAGNOSIS?
• A 15-month-old boy is referred for delayed growth. He had a
normal birth length and weight. His postnatal course was
significant for prolonged jaundice and hypoglycemia.
He has crossed height percentiles, from the 15th to the 5th
percentile, during the past 6 months. His weight is at the 25th
percentile for age.
He has global developmental delay. In addition to delayed tooth
eruption, physical examination is most likely to show which of the
following clinical signs in this child?
• A. Hepatomegaly.
• B. Low-set ears.
• C. Micropenis.
• D. Transverse palmar crease.
• E. Webbing of the second and third toes
31.
32.
33.
34. Remember – Time is moving fast!
• EARLY DIAGNOSIS
• EARLY REFERRAL- AT LEAST 5YRS BEFORE
ONSET OF PUBERTY
• EFFECTIVE COMMUNICATION AND LIASION
WITH THE PATIENT
• OFFER THE LATEST EVIDENCE BASED
TREATMENT WITHOUT LOOSING PRECIOUS
TIME
36. REFERENCES
• Satoh, Mari. “Bone Age: Assessment Methods
and Clinical Applications.” Clinical Pediatric
Endocrinology 24.4 (2015): 143–152. PMC.
Web. 24 Nov. 2017
• Khadilkar VV, Khadilkar AV, Choudhury P,
Agarwal KN, Ugra D, Shah NK. IAP growth
monitoring guidelines for children from birth
to 18 years. Indian Pediatr. 2007;44:187-97.
• Indian Pediatr 2015;52: 47-55