Short stature and tall stature

Pediatric Endocrinology Division

H.Adam Malik Hospital/Medical School
University of Sumatera Utara

Growth

Normal growth
Infant
Childhood
Puberty

Growth : change in size & maturation

Stature : size

Growth Velocity Curve

Cm/tahun

Sex steroid

GH
Infant

Childhood

Puberty

Growth rate by age

1-6 mo
: 18 - 22 cm/yr
6-12 mo
: 14 18 cm/yr
1 yr
: 11 cm/yr
2 yr
: 8 cm/yr
3 yr
: 7 cm/yr
4 puberty : 5 6 cm/yr

INFANT PERIOD
Growth Chart
Catch-down

Canalization

cm

Catch-up

Potensi Tinggi
Genetik

tahun
3

Evaluation of growth

Anthropometry

Standing & sitting : proportional

Arm span

Bone age :
GP, TW, RUT
Normal, delayed, advanced
prediction of final height

Growth chart
Growth curve

NCHS, Jumadias, Husaini

Plotting growth
Normal, short, tall

Interpretation of plot
Potential genetic height

Grow th Chart
195
190

97

185
180

50

175
170
165

160
155
150
145

Height
(cm)

140
135
130
125
120
115
110
105
100
95
90
85
80
2

10

12

14

Age (years)

16

18

Grow th Chart
195
190

97

185
180

50

175

Potential Genetic Height

170
165

160
155
150
145

Height
(cm)

140
135
130
125
120
115
110
105
100
95

CA

HA

90
85
80
2

10

12

14

Age (years)

16

18

Bone age

Greulich & Pyle

Comparison of left wrist
Prediction of FH after 6 years
Table Bayley & Pinneau

Tanner Whitehouse II
Maturation of ossification center
More reliable : scoring system
complicated

Bone Age

Left wrist

Greulich Pyle
Tanner-Whitehouse II
RWT

Ossification centre
Prediction final
height

Short stature
Height < 2SD
Sex, age and race
Pattern of growth more important rather than
absolute position on growth curve

Short stature
Variants of normal
Prenatal onset
Post natal onset

Variants of normal (normal growth velocity)

Familial short stature
Parents height genetically short
normal bone age
short adult

Constitutional delay of growth & puberty

Delayed puberty in the family
Normal growth velocity
normal adult height

Prenatal onset

Primary growth deficiency

Malformation
syndromes

Secondary growth deficiency

Low maternal socioeconomic
Undernutrition
Maternal disorder or disease

Post natal onset

Nutritional
Deprivation syndrome
Cardiac defect
Respiratory insufficiency
Renal disfunction
Hormonal
Chronic infection, chronic disease

Etiology

Primary disturbances of growth

Skeletal dysplasias
Chromosomal abnormalities
Metabolic causes
IUGR
Syndromes
Genetic

Etiology

Secondary growth disturbances

Undernutrition
Disorder of the bowel, kidney, heart, lung
Psychosocial deprivation
Chronic infection, drugs
Endocrine disorder
Idiopathic growth delay

Diagnostic Approach to Short Stature

Short Stature
Normal
Normal Variant

Constitutional Delay

Abnormal

Proportional
Intrauterine

Dysproportional

Extrauterine

Endocrinological causes

Normal variant : CDGP

GH Deficiency
Hypothyroid
Precocious Puberty
Cushings syndrome
Pseudohypoparathyroidism

Treatment
Depend on the etiology
Nutrition
Organic disease
CHD, IDDM
Hormonal
GH, Thyroid, Sex hormone
Mechanical
Bone lengthening : achondroplasia

GH deficiency

Short stature
Chubby
Abdominal adiposity
Micropenis
Single central incisor
Frontal bossing
Proportional

GH Deficiency

Low growth velocity : < 25%

Retarded bone age
GH level < 10 ng/dl
Screening tests : sleep &
excercise
Stimulation test
2 tests : ITT & Arginine,

Low IGF-1

Causes of GH Deficiency

Congenital

Idiopathic
Genetic
Assosiated anatomic defect : SOD,midline defect

Acquired

Trauma
Neoplasma
Cranial irradiation
etc

Treatment

Varies: GH 14 - 21 IU/m2/day
6 times/week
Monitoring:
Height, velocity
Side effect

Terminate :
No response < 2 cm
Epiphyseal plate closure

CDGP

Family history
Growth velocity normal
Bone age retarded
Puberty : late
Adult height : normal

Treatment : No Need

Congenital hypothyroidism

Large posterior fontanelle

Respiratory difficulty
Hypothermia
Feeding difficulty
Lethargy
Delay in passing meconium
Abdominal distention
Vomitting
Prolonged jaundiced
Oedema

Cushings Syndrome
Corticosteroid excess
Growth retardation due to
Interferring protein anabolism
Impairing somatomedin production

Hypertension
Obesity predominant : trunk and neck, moon face
Disturbances of glucose metabolism
Purple striae, hirsutism, osteoporosis, hypogonadism
Muscular weakness

Pseudohypoparathyroidism

Short stature
Mental retardation
Albrights osteodystrophy
Round facies
Ectopic calcification

Pola pertumbuhan linier

Pola pertumbuhan

Conclusion

Short stature

Etiology : varies; endocrinology

Treatable, depend on the etiology
Psychosocial problem

Growth monitoring : important

Anthropometric measurement
Clue to diagnosis

TALL
TALL STATURE
STATURE

Introduction
Definition
Tall stature : height > 97th percentile for age,
sex & race.
Cause
Intrinsic
Acquired

Growth
Growth cessation
cessation
Puberty sex steroid
(estrogen) epiphyseal
fusion
Bone age
Girls 14 16 yrs
Boys 18 20 yrs

Sex steroid & growth

Low dose: stimulate
High dose: inhibit

HEIGHT: UPPER LEVEL

Country (year of
ascertainmet)

Height (boys)
Mean or
median
182.0

194.5

Mean or
median
168.3

179.8

Germany (1992)

179.9

192.5

167.0

179.0

Sweden (1976)

179.1

192.4

165.5

178.2

Czechia (1993)

178.3

191.7

165.0

176.8

Denmark (1982)

179.4

190.4

166.0

176.0

United Kingdom (1995)

176.4

190.5

163.6

176.0

USA (NHCS) (1977)

176.8

187.6

163.7

173.6

The Netherlands (1985)

(p97)

Height (girls)
(p97)

HEIGHT: UPPER LEVEL

Height (boys)
Country (year of
ascertainment)

Height (girls)

Mean or
median

(p97)

Mean or
median

(p97)

France (1979)

175.0

187.0

163.0

174.5

Mexico (1975)

172.8

186.3

160.6

174.5

Turkey (1978)

173.5

186.0

160.0

171.0

Argentina (1987)

172.8

185.6

160.7

172.2

Korea (1979)

170.2

180.0

157.6

166.5

Indonesia (Husaini)

165.1

175.9

153.9

163.4

NCHS(NCHS( ) vs HUSAINI (()

BOYS

GIRLS
175
height (cm)

height (cm)

200

150

100

150

125

100

12 13 14 15 16 17 18
age (years)

12

13

14

15

16

age (years)

17

18

Intrinsic
Intrinsic tall
tall stature
stature
Familial genetic tall stature /
constitutional

Cerebral gigantism (Sotos syndrome)

Marfan syndrome

Homocystinuria

Multiple endocrine neoplasia type 2b

Intrinsic
Intrinsic tall
tall stature
stature
Chromosome

47, XYY; Klinefelter syndrome (46, XXY);

Fragile X syndrome
Beckwith-Wiedemann
Weaver

syndrome (IGF2)

syndrome

Simpson-Golabi-Behmel

syndrome (GPC3)

Bannayan-Riley-Ruvalcaba
Deficiency

syndrome (PTEN)

of aromatase/loss of function
mutations of estrogen receptor (a) in male

Acquired
Acquired tall
tall stature
stature
Infant

of diabetic mother (hyperinsulinism)

Obesity
Sexual

(tall child normal adult height)

precocity (tall child but short adult)

Primary

hypogonadism (eunuchoid)

Hyperthyroidism
Growth

hormone excess (Gigantism,

acromegaly)

Evaluation History & PE

Family history (constitutional, Marfan, familial

precox etc)
Developmental history
Birth weight and length
Stigmata of syndrome
Pubertal status

Evaluation Lab

Growth pattern

Parallel or not
Potential genetic height

Bone age (prediction of final height)

As indicated
Chromosome
Mutation analysis
Others (hormonal, imaging, cardiovascular, eye etc)

Therapy

Causal
Constitutional Tall stature
reassurance
Boys: testosterone 500mg/m2/month
Girls: estradiol 0,1 mg/day

Marfan-arachnodactyly

Marfan subluxatio lentis

Marfan fibrillin (connective)

Fragile-X Syndrome

Soto's syndrome

rare genetic disorder with excessive physical growth

during the first 2 to 3 years of life.
mild mental retardation, delayed motor, cognitive,
and social development, hypotonia (low muscle
tone), and speech impairments.
large at birth, large heads (macrocrania)
disportionately large and long head with a slightly
protrusive forehead, large hands and feet,
hypertelorism (an abnormally increased distance
between the eyes), and downslanting eyes.