Dr. Muddassar Sharif

Assoc. Prof. BBH

Paediatric Department Rawalpindi

Definition of Short stature

Height below 3rd centile or less than 2 standard deviations

below the median height for that age & sex according to

the population standard Males

Age (y)

30

34

38

42

46

50

54

58

62

66

70

74

78

Hei

ght (

in)

Hei

ght (

cm)

2 4 6 8 10 12 14 16 18 20

70

80

90

100

110

120

130

140

150

160

170

180

190

200

0

+2

+1

-1

-2

-2.0 SD (2.3 percentile)

Generally

accepted

definition of

normal range

Growth Physiology

Growth

Environment

HormonesGenetic factors

Dietary factors

•Growth hormone

•Thyroid hormone

•Gonadotrophins

Factors affecting height

Intra

uterine

Growth

factors

Nutrition

Thyroid harmoneGrowth Hormone

FSH

LH

GH

Thyroid

Birth 1 year 2 years 4years 8years Puberty Adult

Normal height pattern

Birth length 50cm

One year 75 cm

Two yrs 87.5 cm

Three yrs 93.75 cm growth

4 yrs 100 cm velocity

8 yrs 125 cm 6 cm

12 yrs 150 cm per year

Growth Charts

Easy Instrument

Monitoring

– Growth Velocity

– Growth Pattern

What are the types of short stature?

Proportionate

Disproportionate

Dysmorphic

Causes Of Short Stature:

A) Proportionate Short Stature

1) Normal Variants:

i) Familial

ii) Constitutional Growth Delay

2) Prenatal Causes:

i) Intra-uterine Growth Restriction-

Placental causes, Infections, Teratogens

ii) Intra-uterine Infections

iii) Genetic Disorders (Chromosomal & Metabolic Disorders)

3) Psychosocial Short Stature

(emotional deprivation)

4) Chronic diseases & malnutrition

5) Endocrine Causes:

- Growth Hormone Deficiency

- Hypothyroidism

- Juvenile Diabetes Mellitus

- Cushing Syndrome

- Pseudo hypoparathyroidism

B) Disproportionate Short Stature

1) With Short Limbs:

- Achondroplasia, Hypochondroplasia,

Chondrodysplasia punctata,

Chondroectodermal dysplasia,

Metaphyseal Chondrodysplasia

- Deformities due to Osteogenesis Imperfecta,

Refractory Rickets

2) With Short Trunk:

- Spondyloepiphyseal dysplasia,

Mucolipidosis, Mucopolysaccharidosis

- Caries Spine, Hemivertebrae

C) Dysmorphic

– Russle Silver syndrome

– Noonan’s syndrome

– Turner syndrome

– Downs syndrome

– Prader Willi syndrome

– Pseudo- hypoparathyroidism

SHORT STATURE

Dysmorphic Normal

•Russel Silver

•Noonan’s

•Turner syndrome

•Downs syndrome

•Prader Willi

•Pseudo- hypoparathyroidism

ProportionateDis-

Proportionate

•Constitutional

•Familial/genetic

•IUGR

•Ch Malnutrition

•Celiac Disease

•Chronic systemic

disease (CRF, CLD)

•GH Deficiency

•Hypogonadism

•Hypothyroidism

•Osteogenesis imperfecta

•Achondroplasia

•Rickets

•Metabolic and storage disorders

•Short spine

•cretinism

Diagnosis

Detailed history

Careful examination

– Height of the child

– Height of parents

– Plotting on growth

chart

Laboratory evaluation

History

Birth history

Nutritional history

Chronic disease history

(asthma, HD,CLD,CRF, chronic diarrhea)

Drugs….chronic steroid therapy

Family history

Clues to etiology from historyHistory Etiology

History of delay of puberty in parents Constitutional delay of growth

Low Birth Weight SGA

Neonatal hypoglycemia, jaundice, micropenis GH deficiency

Dietary intake Under nutrition

Headache, vomiting, visual problem Pituitary/ hypothalamic SOL

Lethargy, constipation, weight gain Hypothyroidism

Polyuria CRF, RTA

Social history Psychosocial dwarfism

Diarrhea, greasy stools Malabsorption

Physical examination

Weight measurement

-Wt. for Age >Ht. for Age i.e. fat & short- Endocrine.

-Ht. for Age > Wt. for Age but both are below the

chronological age i.e. thin & short- Under nutrition /

chronic illness.

Systemic examination to rule out systemic illness

skeletal system examination including spine

Dysmorphic features

Tanner staging

Clues to etiology from examination

Examination finding Etiology

Disproportion Skeletal dysplasia, rickets, hypothyroidism

Dysmorphism Congenital syndromes

Infantile appearance, micro penis Growth hormone deficiency

Hypertension CRF

Short metacarpals Hypoparathyroidism

Goiter, coarse skin Hypothyroidism

Central obesity, striae Cushing syndrome

Pointers to etiology of short stature

Pointer Etiology

Midline defects, micropenis, Frontal bossing, depressed nasal bridge, crowded teeth,

GH deficiency

Rickets Renal failure, RTA, malabsorption

Pallor Renal failure, malabsorption, nutritional anemia

Malnutrition PEM, malabsorption, celiac disease, cystic fibrosis

Obesity Hypothyroidism, Cushing syndrome, Prader Willi syndrome

Metacarpal shortening Turner syndrome, pseudohypoparathyroidism

Cardiac murmur Congenital heart disease, Turner syndrome

Mental retardation Hypothyroidism, Down/ Turner syndrome, pseudohypoparathyroidism

Height measurements

Without footwear

Heels & back touching the wall

Looking straight ahead

Gentle but firm pressure

upwards applied to the mastoids

from underneath

US/ LS ratio

Total Arm span

Target height

Target height in cm for a girl

= [mother's height in cm + (father's height in cm - 13)]

/2

Target height in cm for a boy = [(mother's height

in cm + 13) + father's height in cm)] /2

Growth chartTarget centiles

Investigation:

Level 1 ( essential investigations):

Blood CP with ESR, hepatic & renal profile- to r/o chronic

disease.

BONE AGE (x ray of left wrist)

Urinalysis ( Microscopy, pH, Osmolality)

Stool ( parasites, steatorrhea, occult blood)

Blood ( Calcium, Phosphate, alkaline phosphatase,

venous gas, fasting sugar, albumin, transaminases)

karyotyping & pelvic u/s .

Karyotype to rule out Turner syndrome in girls

If above investigations are normal and height between -2

to -3 SD Observe height velocity for 6-12 months

If height < 3SD level 2 investigations

BONE AGE ( BA ):Bone age assessment should be done

in all children with short stature

Appearance of various epiphyseal

centers & fusion of epiphyses with

metaphyses tells about the skeletal

maturity of the child

Conventionally read from Xray of

hand & wrist using Gruelich-Pyle

atlas or Tanner- Whitehouse method

Delayed bone age

Constitutional short stature

Hypothyroidism

Celiac disease

GH deficiency

Familial Vs Constitutional

Hallmarks of familial (genetic) short stature – Normal bone age,

– Normal growth velocity, and

– Predicted adult height appropriate to the familial pattern

Constitutional growth delay

– Delayed bone age and

– Predicted adult height appropriate to the familial pattern

– Patients with constitutional growth delay typically have a first or second-degree relative with constitutional growth delay (menarche older than 15 y, adult height attained in male relatives when older than 18 y)

Investigations Level 2

IGF-I

IGF Binding protein 3

Growth hormone and other dynamic

stimulation tests

Neuroimaging

These tests are best left for the specialised

units

Investigations Level 3:

Celiac serology ( anti- endomysial or anti- tissue

transglutaminase antibodies)

Duodenal biopsy

GH stimulation test with Clonidine or insulin & serum

insulin like GF-1 levels

Growth hormone deficiency

- Normal length & weight at birth

- Growth delay seen >1yr of age

- Growth velocity < 4cm/year

- Bone Age < Chronological Age by at least 2 yrs

- Infantile gonadal development

- short stature &short growth velocity

- Normal intelligence

- Diagnosis: hGH levels in sleep & after provocation with

clonidine, insulin, propranolol

- hGH>10ng/ml excludes hGH deficiency

GH stimulation testInsulin-induced hypoglycemia is the most powerful stimulus for GH secretion; however, this test also carries the greatest potential for harm.

Alternate GH stimulants: Arginine, levodopa, Propranolol with glucagon, Exercise, Clonidine, Epinephrine.

INTERPRETATION:

Peak stimulated growth hormone conc. <10ng/ml in response to 2 GH stim .test or

<18ng/ml in response to combined Arg- GHRH stimulation test.

GROWTH HORMONE THERAPY

GROWTH HORMONE DEFICIENCY

TURNERS SYNDROME

RENAL INSUFFIENCY

PRADER WILLE SYNDROME

NORMAL CHILDREN WITH HEIGHT <2.4 SD

SGA who have not reached 5th centile by 2yrs

GH THERAPY

DOSE: 0.1U/KG/DAY s.c. at night time

Follow up & watch for at least one year before

starting the treatment.

Earlier is always better & ideal age is 3-4yrs

Never delay beyond 7-8yrs

Usually growth velocity is maximum in first year of

therapy.

CRITERIA FOR STOPPING GROWTH HORMONE:

Decision by patient that he/she is tall enough

Growth rate <1 inch/year

Bone Age >14Yrs in girls & 16yrs in boys

SIDE EFFECTS:

– Pseudotumour cerebri,

– hyperglycemia,

– acute pancreatitis,

– liver abnormalities,

– Gynaecomastia,

Thank You !!

Short Tature

Is it short stature? Definition

What type? Proportionate, disproportionate,

Dysmorphic.

Aetiology

Is growth hormone therapy indicated?

When to stop Growth hormone therapy?

Definition of Short stature

Height below 3rd centile or less than 2 standard

deviations below the median height for that age & sex

according to the population standard Males

Age (y)

30

34

38

42

46

50

54

58

62

66

70

74

78

Hei

ght (

in)

Hei

ght (

cm)

2 4 6 8 10 12 14 16 18 20

70

80

90

100

110

120

130

140

150

160

170

180

190

200

0

+2

+1

-1

-2 -2.0 SD (2.3 percentile)

Generally

accepted

definition of

normal range

SHORT STATURE

Dysmorphic Normal

•Russel Silver

•Noonan’s

•Turner syndrome

•Downs syndrome

•Prader Willi

•Pseudo- hypoparathyroidism

ProportionateDis-

Proportionate

•Constitutional

•Familial/genetic

•IUGR

•Ch Malnutrition

•Celiac Disease

•Chronic systemic

disease (CRF, CLD)

•GH Deficiency

•Hypogonadism

•Hypothyroidism

•Osteogenesis imperfecta

•Achondroplasia

•Rickets

•Metabolic and storage disorders

•Short spine

•cretinism

GROWTH HORMONE THERAPY

GROWTH HORMONE DEFICIENCY

TURNERS SYNDROME

RENAL INSUFFIENCY

PRADER WILLE SYNDROME

NORMAL CHILDREN WITH HEIGHT <2.4 SD

SGA who have not reached 5th centile by 2yrs

CRITERIA FOR STOPPING GROWTH HORMONE:

Decision by patient that he/she is tall enough

Growth rate <1 inch/year

Bone Age >14Yrs in girls & 16yrs in boys

SIDE EFFECTS:

– Pseudotumour cerebri,

– hyperglycemia,

– acute pancreatitis,

– liver abnormalities,

– Gynaecomastia,