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SHORT
STATURE
DR.MANAR ALGHAMDI
OBJECTIVES
01
04
02
03
DEFINITION Approach of Short
stature
CLASSIFICATION MANAGEMENT
Height more than
two standard
deviations below
the mean for age,
or less than the
3rd percentile
3
DEFINITION
At any age : Number of small
square from 50th (mean age) to
the 5th is = 9 square =1.88SD
4
Let’s say that the boy is 10 y/o and
his Ht. is 125 cm
9 small squares = 1.88 SD
14 small squares = ??
14 * 1.88 / 9 = 2.92 SD
GROWTH CHARTS
• We have 4 different growth chart .. 2 for boys and 2 for girls ..
• 2 for age from 0-24 months ..and 2 for age from 2-20 year-old >>
• WHO growth chart : for < 2 years • CDC growth chart : for > 2 years
4 years , girl
Is she short ??
Diagnostic approach
Physical
examination
Laboratory
evaluation
History
Midparental Height
Growth Velocity
Bone age assessment
Midparental Height
father Ht. is 165 cm
mother Ht. is 150 cm ..
Midparental Ht is 164 cm
( 165+150+13/2 )
The boy is 12 y/o , his Ht. is 141 cm
What is his his projected Ht. ?
Growth Velocity
11
Growth velocity determines the change in height over time
a bone age assessment provides an estimate of a
child’s skeletal maturation by assessing the
ossification of the epiphyseal centers
The most widely used method is comparing a
frontal radiograph of the left hand and wrist with
standards FORM, and requires expert
interpretation
Bone age assessment
Delayed bone age :
• Constitutional delayed of growth
• nutritional deficiency
• underlying systemic disease or endocrine
disease
CLASSIFICATION OF SHORT STATURE
13
-Familial SS and Constitutional accounts for 95% for short stature cases
-For both >> Reassure parents and the patient
-For Constitutional >>> the pt. will catch-up later
Differential features of familial short stature and constitutional delay of
growth and puberty
18
Clues to etiology from history
Cause History
SGA Birth weight, length
Constitutional delay of growth History of delay puberty in
parent
cardiac or pulmonary cause Dyspnea
cystic fibrosis Recurrent respiratory infections
with diarrhea
celiac disease chronic diarrhea, anorexia,
abdominal distension and pain
IBD Abdominal pain, bloody stool,
poor weight gain
Cause History
Hypothyroidism Fatigue, cold intolerance, dry skin, hair
loss, constipation, lethargy, and weight
gain
Cushing's syndrome. central obesity, buffalo hump,
abdominal striae, hirsutism, acne,
GH deficiency Hypoglycemia
systemic inflammatory condition such
as juvenile idiopathic arthritis.
Joint pains and rash
craniopharyngioma headache or diplopia
Clues to etiology from history
Physical examination : Dysmorphic features
PHYSICAL EXAMINATION :
Systemic examination
Optic discs
Papilledema suggests a
central nervous system
mass
Goiter
Webbed neck
buffalo hump
Signs of pneumonia
Nasal polyp
Neck & chest
Abdominal
Abdominal distension
suggests coeliac disease
Neurological
Abnormal neurology may be
present with CNS tumors
Decreased deep tendon
reflexes – Suggests
hypothyroidism.
CVS
murmur suggests congenital
heart disease
Spinal & Limbs
Short limbs
Joint swellings
genu valgum
Laboratory evaluation
•
Anemia
•
Chronic illness
CBC
•
IBD
•
Chronic illness
ESR/ CRP
•
Hypothyroidism
TFT
•
Hepatic and renal diseases
Comprehensive
metabolic panel
•
Celiac disease
TTG/IGA
•
Cystic fibrosis
Sweat chloride test
•
Growth hormone deficiency
IGF1/IGFBP3
•
Genetic syndromes
Genetic evaluation
with karyotyping
MANAGEMENT
1 Counseling of parents
2 Dietary advice
3 Pharmacological
treatment
✔ Medical care depends on the etiology of the short stature.
✔ Turner syndrome
✔ chronic renal failure
✔ Prader-Willi syndrome
✔ small for gestational age
✔ Noonan syndrome
✔ GH deficiency
✔ and idiopathic short stature.
Growth hormone therapy
It is administered
through daily injections
✔ Initial dosing 0.16 -
0.24 mg/kg/week
✔ generally well
tolerated, but rare
adverse reactions
have been
reported.
CASES
12 y old girl, no complaint other than SS,
normal P/E
Height 135 cm
Wight 28 kg
Father height 164 cm
Mother height 151cm
1
1. Is the child short?
2. Complete Hx /PE
3. Is the child’s growth within the
normal range for the family?
4. What is the pattern of this growth
failure?
What is the next step?
MPH: 151 cm (141-
161)
Height age:
9.5
Weight age:
8.5
Bone age: BA = CA
What is the next step:
6 months later:
What to till her parents:
Her height 138.5 cm
GV= 3.5 cm /6 months
7 cm / year
This is a case of familial
SS.
Reassurance and F/U
No need for any investigations.
The most likely Diagnosis is familial SS.
Only F/U 6 months later to determine her
GV
13 y old boy, there is no complaint other
than SS, P/E : no sign of puberty
development
Height 135 cm
Wight 30 kg
Father height 166 cm
Mother height 156 cm
2
1. Is the child short?
2. Complete Hx /PE
3. Is the child’s growth within the
normal range for the family?
4. What is the pattern of this growth
failure?
What investigations you have to do:
MPH: 169 cm (159-
179)
Height age: 9
Weight age: 9
Bone age
His bone age report : skeletal age is 11
years
BA < CA
What is the next step?
6 months later:
What to till him and his
parents:
No need for any
investigations.
Only F/U 6 months later to
determine his GV
His height 138.5 cm
GV= 3.5 cm /6 months
7 cm / year
Constitutional delay of
puberty and growth
10 y old girl,
Height 120 cm
Wight 15 kg
Father height 163 cm
Mother height 150cm
3
1. Is the child short?
2. Complete Hx /PE
3. Is the child’s growth within the
normal range for the family?
4. What is the pattern of this
growth failure?
Wt is predominantly
affected = most likely
nutritional causes
MPH: 150 cm (140-
160)
Height age:
7
Weight age:
4
What are the DDx:
What is the next step?
What is the DDx?
Test result
BA BA=CA
CBC low Hb
Urine analysis Normal
U/E Normal
Bone profile Normal
TTG high
nutritional causes (Undernutrition,
Celiac disease), renal tubular
acidosis, rickets….
Celiac
8 y old boy, no complaint other than SS,
P/E : no puberty development
Height 100 cm
Wight 18 kg
Father height 169 cm
Mother height 156 cm
4
1. Is the child short?
2. Complete Hx /PE
3. Is the child’s growth within the
normal range for the family?
4. What is the pattern of this
growth failure?
Ht is predominantly
affected = most likely
Endocrine causes
MPH: 169 cm (159-
179)
Height age:
3.5
Weight age:
5
What is the next step:
Test result
BA At 8 years
TSH and T4 Normal
CBC Normal
Urine analysis Normal
U/E Normal
Bone profile Normal
IGF1
IGFBP-3
low
Refer for pediatric endocrinology
to confirm diagnosis (GH
stimulation test) and assessment
What is the next
step:
6 y old girl, thelarche
Height 124 cm
Wight 24 kg
Father height 163 cm
Mother height 150cm
5
1. Is the child short?
2. Complete Hx /PE
3. Is the child’s growth within the
normal range for the family?
1. What is the pattern of this
growth failure?
MPH: 150 cm (140-
160)
Height age:
7
Weight age:
7
What is the next step?
What is the next step
What is the most likely diagnosis?
Bone age
skeletal age is 11 years
BA > CA
Precocious puberty
This girl if not Tx will end up
being short
immediate referral
+ Do LH/FSH
Estrogen for female and testosterone for
boys
REFERENCES
Thanks!
Do you have any questions?
Short stature (14).pptx

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Short stature (14).pptx

  • 2. OBJECTIVES 01 04 02 03 DEFINITION Approach of Short stature CLASSIFICATION MANAGEMENT
  • 3. Height more than two standard deviations below the mean for age, or less than the 3rd percentile 3 DEFINITION
  • 4. At any age : Number of small square from 50th (mean age) to the 5th is = 9 square =1.88SD 4 Let’s say that the boy is 10 y/o and his Ht. is 125 cm 9 small squares = 1.88 SD 14 small squares = ?? 14 * 1.88 / 9 = 2.92 SD
  • 5. GROWTH CHARTS • We have 4 different growth chart .. 2 for boys and 2 for girls .. • 2 for age from 0-24 months ..and 2 for age from 2-20 year-old >> • WHO growth chart : for < 2 years • CDC growth chart : for > 2 years
  • 6. 4 years , girl Is she short ??
  • 10. father Ht. is 165 cm mother Ht. is 150 cm .. Midparental Ht is 164 cm ( 165+150+13/2 ) The boy is 12 y/o , his Ht. is 141 cm What is his his projected Ht. ?
  • 11. Growth Velocity 11 Growth velocity determines the change in height over time
  • 12. a bone age assessment provides an estimate of a child’s skeletal maturation by assessing the ossification of the epiphyseal centers The most widely used method is comparing a frontal radiograph of the left hand and wrist with standards FORM, and requires expert interpretation Bone age assessment Delayed bone age : • Constitutional delayed of growth • nutritional deficiency • underlying systemic disease or endocrine disease
  • 14.
  • 15.
  • 16. -Familial SS and Constitutional accounts for 95% for short stature cases -For both >> Reassure parents and the patient -For Constitutional >>> the pt. will catch-up later
  • 17. Differential features of familial short stature and constitutional delay of growth and puberty
  • 18. 18
  • 19. Clues to etiology from history Cause History SGA Birth weight, length Constitutional delay of growth History of delay puberty in parent cardiac or pulmonary cause Dyspnea cystic fibrosis Recurrent respiratory infections with diarrhea celiac disease chronic diarrhea, anorexia, abdominal distension and pain IBD Abdominal pain, bloody stool, poor weight gain
  • 20. Cause History Hypothyroidism Fatigue, cold intolerance, dry skin, hair loss, constipation, lethargy, and weight gain Cushing's syndrome. central obesity, buffalo hump, abdominal striae, hirsutism, acne, GH deficiency Hypoglycemia systemic inflammatory condition such as juvenile idiopathic arthritis. Joint pains and rash craniopharyngioma headache or diplopia Clues to etiology from history
  • 21. Physical examination : Dysmorphic features
  • 22. PHYSICAL EXAMINATION : Systemic examination Optic discs Papilledema suggests a central nervous system mass Goiter Webbed neck buffalo hump Signs of pneumonia Nasal polyp Neck & chest Abdominal Abdominal distension suggests coeliac disease Neurological Abnormal neurology may be present with CNS tumors Decreased deep tendon reflexes – Suggests hypothyroidism. CVS murmur suggests congenital heart disease Spinal & Limbs Short limbs Joint swellings genu valgum
  • 23. Laboratory evaluation • Anemia • Chronic illness CBC • IBD • Chronic illness ESR/ CRP • Hypothyroidism TFT • Hepatic and renal diseases Comprehensive metabolic panel • Celiac disease TTG/IGA • Cystic fibrosis Sweat chloride test • Growth hormone deficiency IGF1/IGFBP3 • Genetic syndromes Genetic evaluation with karyotyping
  • 24. MANAGEMENT 1 Counseling of parents 2 Dietary advice 3 Pharmacological treatment ✔ Medical care depends on the etiology of the short stature.
  • 25. ✔ Turner syndrome ✔ chronic renal failure ✔ Prader-Willi syndrome ✔ small for gestational age ✔ Noonan syndrome ✔ GH deficiency ✔ and idiopathic short stature. Growth hormone therapy It is administered through daily injections ✔ Initial dosing 0.16 - 0.24 mg/kg/week ✔ generally well tolerated, but rare adverse reactions have been reported.
  • 26.
  • 27. CASES
  • 28. 12 y old girl, no complaint other than SS, normal P/E Height 135 cm Wight 28 kg Father height 164 cm Mother height 151cm 1
  • 29. 1. Is the child short? 2. Complete Hx /PE 3. Is the child’s growth within the normal range for the family? 4. What is the pattern of this growth failure? What is the next step? MPH: 151 cm (141- 161) Height age: 9.5 Weight age: 8.5 Bone age: BA = CA
  • 30. What is the next step: 6 months later: What to till her parents: Her height 138.5 cm GV= 3.5 cm /6 months 7 cm / year This is a case of familial SS. Reassurance and F/U No need for any investigations. The most likely Diagnosis is familial SS. Only F/U 6 months later to determine her GV
  • 31. 13 y old boy, there is no complaint other than SS, P/E : no sign of puberty development Height 135 cm Wight 30 kg Father height 166 cm Mother height 156 cm 2
  • 32. 1. Is the child short? 2. Complete Hx /PE 3. Is the child’s growth within the normal range for the family? 4. What is the pattern of this growth failure? What investigations you have to do: MPH: 169 cm (159- 179) Height age: 9 Weight age: 9 Bone age His bone age report : skeletal age is 11 years BA < CA
  • 33. What is the next step? 6 months later: What to till him and his parents: No need for any investigations. Only F/U 6 months later to determine his GV His height 138.5 cm GV= 3.5 cm /6 months 7 cm / year Constitutional delay of puberty and growth
  • 34. 10 y old girl, Height 120 cm Wight 15 kg Father height 163 cm Mother height 150cm 3
  • 35. 1. Is the child short? 2. Complete Hx /PE 3. Is the child’s growth within the normal range for the family? 4. What is the pattern of this growth failure? Wt is predominantly affected = most likely nutritional causes MPH: 150 cm (140- 160) Height age: 7 Weight age: 4
  • 36. What are the DDx: What is the next step? What is the DDx? Test result BA BA=CA CBC low Hb Urine analysis Normal U/E Normal Bone profile Normal TTG high nutritional causes (Undernutrition, Celiac disease), renal tubular acidosis, rickets…. Celiac
  • 37. 8 y old boy, no complaint other than SS, P/E : no puberty development Height 100 cm Wight 18 kg Father height 169 cm Mother height 156 cm 4
  • 38. 1. Is the child short? 2. Complete Hx /PE 3. Is the child’s growth within the normal range for the family? 4. What is the pattern of this growth failure? Ht is predominantly affected = most likely Endocrine causes MPH: 169 cm (159- 179) Height age: 3.5 Weight age: 5
  • 39. What is the next step: Test result BA At 8 years TSH and T4 Normal CBC Normal Urine analysis Normal U/E Normal Bone profile Normal IGF1 IGFBP-3 low Refer for pediatric endocrinology to confirm diagnosis (GH stimulation test) and assessment What is the next step:
  • 40. 6 y old girl, thelarche Height 124 cm Wight 24 kg Father height 163 cm Mother height 150cm 5
  • 41. 1. Is the child short? 2. Complete Hx /PE 3. Is the child’s growth within the normal range for the family? 1. What is the pattern of this growth failure? MPH: 150 cm (140- 160) Height age: 7 Weight age: 7
  • 42. What is the next step? What is the next step What is the most likely diagnosis? Bone age skeletal age is 11 years BA > CA Precocious puberty This girl if not Tx will end up being short immediate referral + Do LH/FSH Estrogen for female and testosterone for boys
  • 43.
  • 45. Thanks! Do you have any questions?