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SHORT STATURE: EVALUATION
DR. A.B.M. KAMRUL HASAN
MD THESIS PART (EM)
DEPT. OF ENDOCRINOLOGY, BSMMU
rangassmc@gmail.com
6/1/2014 1
6/1/2014 2
NOTICED SINCE LONGTIME……………..
Family seeks medical attention for their short child
6/1/2014 3
•Shorter than their younger sibling
•Shortest in their class
•Gets teased
•Bullied /treated differently in school
•Size not meet expectations
•Impediment to sports
•Want to be sure nothing WRONG
•SHORT STATURE CAUSING
DISTRESS
•Severity of height deficit
•Degree of tolerance/ acceptance
•Child’s coping skills
“HOW TALL ARE YOU ?” instead of “WHAT
IS YOUR HEIGHT”
• Sandy Allen (7ft ½ inch) never married
• George W. Bush only the fourth major
presidential candidate to succeed over a taller
opponent
• Girls referred half as boys and were significantly
shorter
• Americans specialists prescribed 13x more GH
to boys for identical case scenarios
6/1/2014 4
• Short stature imposes psychosocial stress
• How short is too short ???
• Does short stature warrant medical treatment?
• A treatment approach based on suffering , rather than
height , has been proposed
• CAUTION whether rhGH treatment for healthy short stature
children construes medical or cosmetic treatment
• Whether this is an appropriate means of resource allocation
on a societal level !
6/1/2014 5
A child with short stature
Three criterias-
• Height more than 3.5 SD below the mean for
chronological age
• Growth rate more than 2 SD below the mean for
chronological age
• Height more than 2 SD below the target height
when corrected for mid-parental height
6/1/2014 6
Regulation of growth
• Endocrine factors:
• GH & IGF
• Thyroid hormones
• Sex steroids
• Glucocorticoids
• Other factors:
• Genetic factors
• Socioeconomic factors
• Nutritional factors
• Psychological factors
• Chronic disease
Regulation of growth
Normal human growth can be divided into
three overlapping stages each under the
control of different factors:
1. Infancy:
o largely under nutritional regulation
o wide inter-individual variation in rates of growth
o many infants show significant ‘catch-up’ or ‘catch-down’
in weight and length
o by 2 years, length is much more predictive of final adult
height than at birth
Regulation of growth
2. Childhood:
o growth hormone (GH) and thyroxine
o mini-growth spurts with intervening stasis, each phase lasting
several weeks
o Over years, a child will tend to maintain their centile position
on height charts, with a height velocity between the 25th and
75th centiles
3. Puberty:
o The combination of GH and sex hormones promotes bone
maturation and a rapid growth acceleration or ‘growth spurt’.
o in both sexes, oestrogen eventually causes epiphyseal fusion,
resulting in the attainment of final height.
Sex differences
• Adult heights differ between ♂ and ♀ by, on
average, 13cm
• However, during childhood, onset of the pubertal
growth spurt is earlier in ♀, who are therefore,
on average, taller than ♂ between the ages of
10–13 years.
Assessment of growth
• To minimize error in the calculation of height
velocity (cm/year), height measurements should
be taken
• at least 6 months apart
• using the same equipment and
• Ideally by the same person.
Height measurements
• From birth to 2 years
old, supine length is
measured ideally using
a measuring board (e.g.
Harpenden
neonatometer).
• Two adults are needed
to ensure that the child
is lying straight and
legs extended.
Height measurements
• From 2 years old, standing height is
measured against a wall-mounted
or free-standing stadiometer
• Without footwear
• Heels & back touching the wall
• Looking straight ahead
• Gentle but firm pressure upwards
applied to the mastoids from
underneath
• US / LS ratio
• Horizontal Arm span
Growth Velocity
• Height more than 3.5 SD below the mean for
chronological age- pathological short stature
• 3rd percentile is only at 2 SD below the mean
• Dx should not be base on a single measurement
• Serial measurements- allow determination of
growth velocity
• Varies at different ages
• Growth rate <5 cm per year between the ages of
4 yrs to the onset of puberty is abnormal
Mid-Parental Height (MPH)
• MPH is an estimate of the child’s genetic height
potential and is calculated as:
[(Mother’s ht + Father’s ht) / 2] + 7cm (for boys)
or – 7cm (for girls)
• It can be used to estimate a child’s expected final
height
• there is a wide target range (MPH ± 10cm for boys
and ± 8.5cm for girls)
• more commonly used to assess whether the
child’s current height centile is consistent with
genetic expectation
Bone Age
• Skeletal maturation proceeds in an orderly manner from
the first appearance of each epiphyseal centre to the
fusion of the long bones.
• From chronological age 3–4 years, bone age may be
quantified from radiographs of the NON DOMINANT (left)
hand and wrist by comparison with standard photographs
(e.g. Greulich and Pyle method) or by an individual bone
scoring system (e.g. Tanner–Whitehouse method).
• The difference between bone age and chronological age
is an estimation of tempo of growth.
Bone Age
• The initiation of puberty usually coincides with a bone
age around 10.5–11 years in girls and 11–11.5 years in
boys, although the correlation between bone age and
pubertal timing is approximate.
• Girls reach skeletal maturity at a bone age of 15 years
and boys when bone age is 17 years
• Thus, bone age allows an estimation of remaining
growth potential and can be used to aid in the prediction
of final adult height.
Bone Age
Delayed Bone Age
• Constitutional short stature
• Hypothyroidism
• Celiac disease
• GH deficiency
• Corticosteroid Rx
CAUSES OF SHORT STATURE
Physiological short stature
• familial
• constitutional delay of growth and puberty
Pathological short stature
Systemic diseases
Chronic anaemia
Congenital heart disease
Chronic renal failure
Chronic severe infection
Chronic asthma
Malabsorption
RTA
Chronic liver disease
Under nutrition
Psychosocial dwarfism
Endocrine disorders
GH deficiency / insensitivity
Hypothyroidism
Cushing syndrome
Pseudohypoparathyroidism
Disorders of vitamin D metabolism
Diabetes mellitus
Diabetes insipidus
Prematurity & SGA
Skeletal dysplasias
Genetic syndrome and enborn error
of metabolism
SHORT STATURE
Dysmorphic Normal
•Turner syndrome
•Noonan’s
•Downs syndrome
•Prader Willi
•Pseudo-
hypoparathyroidism
•Russle Silver
Proportionate Dis-Proportionate
•Constitutional
•Familial / Genetic
•IUGR
•Ch Malnutrition
•Celiac Disease
•Chronic systemic
disease (CRF, CLD)
•GH Deficiency
•Hypogonadism
•Hypothyroidism
•Osteogenesis
imperfecta
•Achodroplasia
•Rickets
•Metabolic and
storage disorders
(short spine)
Approach to a child with short stature
• History
• Physical examination
• Height of the child
• Height of parents
• Plotting on growth chart
• Workup
History
• Who is concerned, child or parents?
• What are the parental heights?
• Has the child always been small or does the history suggest
recent growth failure? Try to obtain previous measurements
(e.g. from parents, GP, health visitor, school).
• Ask about maternal illness in pregnancy, drug intake and
possible substance abuse in pregnancy, gestation at delivery,
size at birth (weight/length/head circumference), childhood
illnesses, medication, and developmental milestones.
• Systematic enquiry for headaches, visual disturbance,
asthma/respiratory symptoms, abdominal symptoms, and diet.
• Is there a family history of short stature or pubertal delay?
• What are the psychosocial circumstances of the child and the
family?
Examination
• Measured & charted height and height velocity over at
least 6 months.
• Arm span, US:LS
• Measured & charted weight & BMI
• Assess for the presence and severity of chronic disease.
Low weight for height suggests a nutritional diagnosis, GI
cause, or other significant systemic disease.
• Pubertal stage using Tanner’s criteria.
• Observe for dysmorphic features and signs of
endocrinolopathy
• Signs of syndromes, midline defects
• Neurological examination
• Measure parents’ heights, and calculate MPH.
Laboratory Evaluation
• CBC, ESR
• Liver & Kidney
function tests
• S. Electrolytes
• Urinalysis
• TSH, FT4
• IGF-1, IGFBP-3
• S. Prolactin
• Karyotype
• 24 hr UFC, overnight
DST
• Radiology: MRI Brain,
USG Pelvic organs
• Celiac panel
• GH (provocation
tests)
• Genetic testing
Constitutional delay of growth and puberty
• Often presents in adolescence but may also be
recognized in earlier childhood, more prevalent in
♂.
• Characteristic features:
 short stature and pubertal delay by >2 SD,
and/or
 bone age delay in an otherwise healthy child
 In the adolescent years, short sitting height
percentile, compared to leg length, is typical
Constitutional delay of growth and puberty
• There is often a family history of delayed puberty
• Bone age delay usually remains consistent over
time and height velocity is normal for the bone
age. Final height may not reach target height.
• GH secretion is usually normal, although
provocation tests should be primed by prior
administration of exogenous sex hormones if
bone age is >10 years.
Primary GH deficiency
• Infancy:
 may present with hypoglycaemia
 Coexisting ACTH, TSH, and gonadotrophin
deficiencies may cause prolonged
hyperbilirubinaemia and micropenis
 Size may be normal, as fetal and infancy growth is
more dependent on nutrition and other growth factors
than on GH.
Primary GH deficiency
• Childhood:
 Slow growth velocity, short stature, decreased muscle
mass, and increased SC fat.
 Underdevelopment of the mid facial bones, relative
protrusion of the frontal bones because of mid-facial
hypoplasia, delayed dental eruption, and delayed
closure of the anterior fontanelle may be seen.
 These children have delayed bone age and delayed
puberty.
Hypothyroidism
• In childhood, hypothyroidism may present with
growth failure alone
• Intellectual problems
• Typical features uncommon
• Bone age is often disproportionately delayed.
• Very rarely, early puberty may occur.
• Most cases of childhood hypos are autoimmune
Figure: A height chart for boys. Child A illustrates the course of a child with hypopituitarism,
initially treated with cortisol and thyroxine, but showing growth only after growth hormone
treatment. Child B shows the course of a child with constitutional growth delay without
treatment.
Growth chart of CDGP
Growth chart of GH deficiency
Growth chart of Hypothyroidism
Growth chart of IBD
Evaluation of short stature

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Evaluation of short stature

  • 1. SHORT STATURE: EVALUATION DR. A.B.M. KAMRUL HASAN MD THESIS PART (EM) DEPT. OF ENDOCRINOLOGY, BSMMU rangassmc@gmail.com 6/1/2014 1
  • 2. 6/1/2014 2 NOTICED SINCE LONGTIME……………..
  • 3. Family seeks medical attention for their short child 6/1/2014 3 •Shorter than their younger sibling •Shortest in their class •Gets teased •Bullied /treated differently in school •Size not meet expectations •Impediment to sports •Want to be sure nothing WRONG •SHORT STATURE CAUSING DISTRESS •Severity of height deficit •Degree of tolerance/ acceptance •Child’s coping skills
  • 4. “HOW TALL ARE YOU ?” instead of “WHAT IS YOUR HEIGHT” • Sandy Allen (7ft ½ inch) never married • George W. Bush only the fourth major presidential candidate to succeed over a taller opponent • Girls referred half as boys and were significantly shorter • Americans specialists prescribed 13x more GH to boys for identical case scenarios 6/1/2014 4
  • 5. • Short stature imposes psychosocial stress • How short is too short ??? • Does short stature warrant medical treatment? • A treatment approach based on suffering , rather than height , has been proposed • CAUTION whether rhGH treatment for healthy short stature children construes medical or cosmetic treatment • Whether this is an appropriate means of resource allocation on a societal level ! 6/1/2014 5
  • 6. A child with short stature Three criterias- • Height more than 3.5 SD below the mean for chronological age • Growth rate more than 2 SD below the mean for chronological age • Height more than 2 SD below the target height when corrected for mid-parental height 6/1/2014 6
  • 7. Regulation of growth • Endocrine factors: • GH & IGF • Thyroid hormones • Sex steroids • Glucocorticoids • Other factors: • Genetic factors • Socioeconomic factors • Nutritional factors • Psychological factors • Chronic disease
  • 8. Regulation of growth Normal human growth can be divided into three overlapping stages each under the control of different factors: 1. Infancy: o largely under nutritional regulation o wide inter-individual variation in rates of growth o many infants show significant ‘catch-up’ or ‘catch-down’ in weight and length o by 2 years, length is much more predictive of final adult height than at birth
  • 9. Regulation of growth 2. Childhood: o growth hormone (GH) and thyroxine o mini-growth spurts with intervening stasis, each phase lasting several weeks o Over years, a child will tend to maintain their centile position on height charts, with a height velocity between the 25th and 75th centiles 3. Puberty: o The combination of GH and sex hormones promotes bone maturation and a rapid growth acceleration or ‘growth spurt’. o in both sexes, oestrogen eventually causes epiphyseal fusion, resulting in the attainment of final height.
  • 10. Sex differences • Adult heights differ between ♂ and ♀ by, on average, 13cm • However, during childhood, onset of the pubertal growth spurt is earlier in ♀, who are therefore, on average, taller than ♂ between the ages of 10–13 years.
  • 11. Assessment of growth • To minimize error in the calculation of height velocity (cm/year), height measurements should be taken • at least 6 months apart • using the same equipment and • Ideally by the same person.
  • 12. Height measurements • From birth to 2 years old, supine length is measured ideally using a measuring board (e.g. Harpenden neonatometer). • Two adults are needed to ensure that the child is lying straight and legs extended.
  • 13. Height measurements • From 2 years old, standing height is measured against a wall-mounted or free-standing stadiometer • Without footwear • Heels & back touching the wall • Looking straight ahead • Gentle but firm pressure upwards applied to the mastoids from underneath • US / LS ratio • Horizontal Arm span
  • 14.
  • 15. Growth Velocity • Height more than 3.5 SD below the mean for chronological age- pathological short stature • 3rd percentile is only at 2 SD below the mean • Dx should not be base on a single measurement • Serial measurements- allow determination of growth velocity • Varies at different ages • Growth rate <5 cm per year between the ages of 4 yrs to the onset of puberty is abnormal
  • 16. Mid-Parental Height (MPH) • MPH is an estimate of the child’s genetic height potential and is calculated as: [(Mother’s ht + Father’s ht) / 2] + 7cm (for boys) or – 7cm (for girls) • It can be used to estimate a child’s expected final height • there is a wide target range (MPH ± 10cm for boys and ± 8.5cm for girls) • more commonly used to assess whether the child’s current height centile is consistent with genetic expectation
  • 17. Bone Age • Skeletal maturation proceeds in an orderly manner from the first appearance of each epiphyseal centre to the fusion of the long bones. • From chronological age 3–4 years, bone age may be quantified from radiographs of the NON DOMINANT (left) hand and wrist by comparison with standard photographs (e.g. Greulich and Pyle method) or by an individual bone scoring system (e.g. Tanner–Whitehouse method). • The difference between bone age and chronological age is an estimation of tempo of growth.
  • 18. Bone Age • The initiation of puberty usually coincides with a bone age around 10.5–11 years in girls and 11–11.5 years in boys, although the correlation between bone age and pubertal timing is approximate. • Girls reach skeletal maturity at a bone age of 15 years and boys when bone age is 17 years • Thus, bone age allows an estimation of remaining growth potential and can be used to aid in the prediction of final adult height.
  • 20. Delayed Bone Age • Constitutional short stature • Hypothyroidism • Celiac disease • GH deficiency • Corticosteroid Rx
  • 21. CAUSES OF SHORT STATURE Physiological short stature • familial • constitutional delay of growth and puberty Pathological short stature Systemic diseases Chronic anaemia Congenital heart disease Chronic renal failure Chronic severe infection Chronic asthma Malabsorption RTA Chronic liver disease Under nutrition Psychosocial dwarfism Endocrine disorders GH deficiency / insensitivity Hypothyroidism Cushing syndrome Pseudohypoparathyroidism Disorders of vitamin D metabolism Diabetes mellitus Diabetes insipidus Prematurity & SGA Skeletal dysplasias Genetic syndrome and enborn error of metabolism
  • 22. SHORT STATURE Dysmorphic Normal •Turner syndrome •Noonan’s •Downs syndrome •Prader Willi •Pseudo- hypoparathyroidism •Russle Silver Proportionate Dis-Proportionate •Constitutional •Familial / Genetic •IUGR •Ch Malnutrition •Celiac Disease •Chronic systemic disease (CRF, CLD) •GH Deficiency •Hypogonadism •Hypothyroidism •Osteogenesis imperfecta •Achodroplasia •Rickets •Metabolic and storage disorders (short spine)
  • 23. Approach to a child with short stature • History • Physical examination • Height of the child • Height of parents • Plotting on growth chart • Workup
  • 24. History • Who is concerned, child or parents? • What are the parental heights? • Has the child always been small or does the history suggest recent growth failure? Try to obtain previous measurements (e.g. from parents, GP, health visitor, school). • Ask about maternal illness in pregnancy, drug intake and possible substance abuse in pregnancy, gestation at delivery, size at birth (weight/length/head circumference), childhood illnesses, medication, and developmental milestones. • Systematic enquiry for headaches, visual disturbance, asthma/respiratory symptoms, abdominal symptoms, and diet. • Is there a family history of short stature or pubertal delay? • What are the psychosocial circumstances of the child and the family?
  • 25. Examination • Measured & charted height and height velocity over at least 6 months. • Arm span, US:LS • Measured & charted weight & BMI • Assess for the presence and severity of chronic disease. Low weight for height suggests a nutritional diagnosis, GI cause, or other significant systemic disease. • Pubertal stage using Tanner’s criteria. • Observe for dysmorphic features and signs of endocrinolopathy • Signs of syndromes, midline defects • Neurological examination • Measure parents’ heights, and calculate MPH.
  • 26. Laboratory Evaluation • CBC, ESR • Liver & Kidney function tests • S. Electrolytes • Urinalysis • TSH, FT4 • IGF-1, IGFBP-3 • S. Prolactin • Karyotype • 24 hr UFC, overnight DST • Radiology: MRI Brain, USG Pelvic organs • Celiac panel • GH (provocation tests) • Genetic testing
  • 27. Constitutional delay of growth and puberty • Often presents in adolescence but may also be recognized in earlier childhood, more prevalent in ♂. • Characteristic features:  short stature and pubertal delay by >2 SD, and/or  bone age delay in an otherwise healthy child  In the adolescent years, short sitting height percentile, compared to leg length, is typical
  • 28. Constitutional delay of growth and puberty • There is often a family history of delayed puberty • Bone age delay usually remains consistent over time and height velocity is normal for the bone age. Final height may not reach target height. • GH secretion is usually normal, although provocation tests should be primed by prior administration of exogenous sex hormones if bone age is >10 years.
  • 29. Primary GH deficiency • Infancy:  may present with hypoglycaemia  Coexisting ACTH, TSH, and gonadotrophin deficiencies may cause prolonged hyperbilirubinaemia and micropenis  Size may be normal, as fetal and infancy growth is more dependent on nutrition and other growth factors than on GH.
  • 30. Primary GH deficiency • Childhood:  Slow growth velocity, short stature, decreased muscle mass, and increased SC fat.  Underdevelopment of the mid facial bones, relative protrusion of the frontal bones because of mid-facial hypoplasia, delayed dental eruption, and delayed closure of the anterior fontanelle may be seen.  These children have delayed bone age and delayed puberty.
  • 31. Hypothyroidism • In childhood, hypothyroidism may present with growth failure alone • Intellectual problems • Typical features uncommon • Bone age is often disproportionately delayed. • Very rarely, early puberty may occur. • Most cases of childhood hypos are autoimmune
  • 32.
  • 33. Figure: A height chart for boys. Child A illustrates the course of a child with hypopituitarism, initially treated with cortisol and thyroxine, but showing growth only after growth hormone treatment. Child B shows the course of a child with constitutional growth delay without treatment.
  • 35. Growth chart of GH deficiency
  • 36. Growth chart of Hypothyroidism