Approach to short stature

Dr.Yassin M Al-Saleh

Their Prophet said to them: 'Allah has raised

Saul to be your king. ' But they replied: 'Should

he be given the kingship over us, when we are

more deserving of it than he and he has not

been given abundant wealth? ' He said: 'Allah

has chosen him over you and increased him

with amplitude in knowledge and body. Allah

gives His kingship to whom He will. Allah is the

Embracer, the Knower.

Case scenario 5y8m old boy brought by parent with

concern regarding the growth.

Case scenario cont.

Not growing well since birth.

Systemic review:

Chronic constipation since birth.

Pallor.

Anorexia.

Wearing glasses.

Case scenario cont.

Perinatal: FT,NSVD, BW: normal

Uneventful pregnancy.

Past medical : Chronic constipation

since birth mostly functional.

Past surgical: Rectal biopsy twice.

Inconclusive.

Medication: Was on lactlose and

enema no more.

Case scenario cont.

Allergy: none.

Diet: poor appitite , anorexic most of

the time.

Development: excellent in KG.

Family history: consangous marriage .

4 other brothers all tall.

No family history of short relative or

constiotional.

Social: unremarkable

Case scenario cont.Exam:

Soft dysmorphism .

no disproportion.

Vital sign: stable

Weight on third. HT 3 SD below the mean HC normal

MPH172. upper to lower segment : 1.2

Arm span -2

Height velocity 3cm per year

pubertal status. Tanner 1

Nutritional status cachectic

Systemic exam:

head-to-toe fair color, wearing glasses.

CVS,CHEST,ABDOMIN,neuro, thyroid, musculoskeletal.

DDx:

Systemic diseases: Gastrointestinal Malapsorption ,celiac cystic fibrosis

renal disease

renal tubular acidosis

chronic renal insufficiency

Hematological:

Anamia.

Endocrinopathies:

Hypothyrodism.

GHD. ISS.

INTRODUCTION

Definition of short stature:

length or height more than 2 (SD) below the mean (<2.3rd percentile.)

for children of that sex and chronologic age (and ideally of the same racial-ethnic group) .

Growth failure

• height below 3rd percentile (-2SD for

age and gender)

• height significantly below genetic

potentials (-2SD below mid-parental

target)

• abnormally slow growth velocity

• downwardly crossing percentile

channels on growth chart .

Normal Growth

Genetic

Nutritional

Metabolic

Endocrine

Enviromental

Statural growth is a continuous but not linear process.

Rule of five.length

age

Growth

velocity

50cm 75cm 100c

m birth 1 year 4 year 12 year

150c

m

25cm/year 10cm/year 5cm/year

physiology

Evaluation

plotted on an appropriate growth

chart.

Length is measured lying down and

should be used for infants and

children up to 24 months of age .

height is measured standing and

should be used for children 2 years

and above.

If the growth velocity is subnormal

(below the 25th percentile for age) the

child should be thoroughly

investigated.

growth velocity

causes

familial short stature

constitutional growth delay

small for gestational age

genetic syndromes

Down syndrome, Turner syndrome

Prader-Willi syndrome,RSS

skeletal dysplasia

achondroplasia, hypochondroplasia

Nonorganic aetiologies psychosocial deprivation

Causes cont.

Systemic diseases

infectious

HIV, tuberculosis

cardiac disease

renal disease

renal tubular acidosis

chronic renal insufficiency

Gastrointestinal

Malapsorption ,celiac

cystic fibrosis

inflammatory bowel disease

chronic lung disease, bronchial asthma

malignancy

central nervous system disease

Causes cont.

endocrinopathies

hypothyroidism

hypopituitarism

isolated GH deficiency

insensitivity (Laron syndrome)

glucocorticoid excess

Cushing syndrome, exogenous steroids

precocious puberty

pseudohypoparathyroidism

pseudopseudohypoparathyroidism

Growth

hormone

deficiency

Growth hormone deficiency

epidemiology

The incidence :about 1:4000 to 1:10000

3 to 30 % of children with growth

hormone deficiency (GHD) have an

affected parent, sibling, or child.

Growth hormone deficiency

epidemiology

idiopathiccongenital acquired

congenital

• Mutations:

• Prop-1. Pit-1

• Septo-optic dysplasia

acquired

Head trauma

Tumor

Inflammatory (Histiocytosis X, autoimmune)

CNS radiation

CLINICAL PRESENTATION

The single most important clinical

manifestation of GHD is growth failure.

Congenital :

breech presentation and perinatal

asphyxia.

hypoglycemia and prolonged jaundice.

The penis may be small.

Evaluation

History AND

physical

examination

History

Current

When and how discovered

Systemic review

Birth and Antenatal

maternal history of smoking,

hypertension, diabetes

birth weight and length

gestational age, mode of delivery

Apgar score

neonatal complication

Nutrition and allergy

pattern of growth from birth

development

Social

Maternal and child relationship

Family History

short stature

age of onset of puberty in

family members

diseases in the family.

Past history

Medical ,surgical and drug intake

Physical Examination

Anthropometry

height, weight, head circumference

height velocity

arm span, maneuvers

ratios of upper to lower segments

Systemic exam

general appearance, dysmorphism,

Vital sign,

pubertal staging

ENT, CVS, RS, abdomin , NEURO,

musculoskeletal,

mid-parental height (MPH)

Investigation

1st step

CBC, diff, ESR

Electrolytes, creatinine, bicarbonate, calcium,

phosphate, alkaline phosphatase, albumin, Urinalysis.

TSH, Free T4.

serological screen for celiac disease

Karyotype

Bone age

Greulich & Pyle Atlas

Investigation

2nd step

Insulin-like growth factor-1 (IGF-I) (SM-C)

Insulin-like growth factor binding protein-3 (IGFBP-3)

3rd step

provocative growth hormone (GH) testing

MRI

GH stimulation test

insulin, arginine, clonidine , glucagon.

GH peak after stimulation < 10 ng/ml

Management

• treat underlying cause.

• psychological support for non-treatable

causes.

indications for GH treatment

• GH deficiency.

• Turner syndrome.

• Noonan syndrome.

• Russel silver syndrome

• small for gestational age.

• chronic renal insufficiency.

• idiopathic short stature.

• Prader–Willi syndrome .

GH treatment

GH dose: 0.18 - 0.3 mg/kg/day (0.5 -1.0 units/kg/wk) at night.

25-35 mic per kg per day

GH treatment should start with low doses and be titrated according to clinical

patients should be monitored at 3-month intervals

continue treatment till child reaches

near final height.

a height velocity of < 2cm / year

bone age :

>13-14 years in girls

>15-16 years in boys.

when to stop

complications

• increased intracranial pressure.

• SCFE.

• Impaired GTT.

joint pain, muscle pain.

carpal tunnel syndrome.

Pancreatitis.

Scoliosis.

Increased risk of recurrence of

neoplasim.

Any new treatment??

insulin-like growth factor (IGF).

GnRH analoug.

Aromates inhibitor.

Testosterone.

Appendages

History

1958: Maurice

Raben purified GH

from cadaver

pituitary glands;

treated patient who

had GH deficiency.

History

• 1981: Boyer and Swanson use recombinant DNA

technology to synthesize GH – the first such use of this

technology.

• 1985: Four cases of Creutzfeldt-Jakob disease in

recipients of cadaver-derived GH

• 1985: FDA approves recombinant DNA-derived human

GH for children with GH-deficiency

Gallery

Turner syndrome

prader-willi syndrome

russell silver syndrome

Seckel syndrome

achondroplasia