Short Stature

Causes. Diagnosis. Treatment.

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Growth is an important index of

MENTAL PHYSICAL SYCHOSOCI

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~ Chronic problems in any of these areas may be reflected in a decreased growth rate.

Causes:
Normal growth is the result of several factors, such as

NUTRITION
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GENETICS

HORMONES

The following are possible causes of growth failure.

I-Non Endocrinal Causes of Short Stature i-Chronic Diseases:

~ Chest disease ~ Heart disease >- GIT disease ~ Liver disease ~ Kidney disease ~ Hematological ~ Rheumatologic disease diseases

2-Psychosocial Causes:
Maternal deprivation syndrome: This often occurs in association with emotional deprivation and/ or neglect. Psychological Dwarfism: Psychological stress, or psychiatric diseases can inhibit growth either by altering endocrine function, or by secondary effect on nutrition.

3-Malnutrition: Worldwide, malnutrition is probably the most common cause of growth failure. Poor weight gain is often associated with short stature in these patients

6-Syndromes

of Short Stature:

Skeletal dysplasia (bone and cartilage disorder) ~ Normal - sized trunk ~ Short arms ~ Short legs ~ Slightly enlarged head with a prominent forehead

Turner syndrome (any short femalekaryotyping) Down syndrome

 Prader- Willi syndrome, Laurence Moon Beidle (obesity + delayed puberty + short stature+ .... ).

7-Prematurities retardation:

and intrauterine

growth

30% of ID GR infants may have short stature.

8-Medications (corticosteroids):
Steroid excess stops growth more quickly than weight gain.

Cushing Syndrome:
Either exogenous or endogenous excess glucocorticoids lead to decreased growth before obesity or other signs of Cushing's syndrome develop.

-Diabetes mellitus:
Poorly controlled type 1 DM causes slow growth, while well controlled patients are compatible with normal growth.

-Diabetes insipidus. -Disorders of vitamin D metabolism. -Hypoparathyroidism.

Growth Hormone Deficiency:

Incidence: 1:4000 (not rare) Boys more than girls, ratio 2.5 - 1 Children with growth hormone deficiency have normal body proportions, but they may appear younger than their actual age.

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Causes of GH Deficiency:
- Growth hormone deficiency Congenital Idiopathic Acquired (brain tumor- irradiation) - Growth hormone resistance (Laron)

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GH

GHR-IH & GHRH

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GHBPs (IGFBP3)

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Liver and other tissues

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IGFl IGF2
Target issue ------

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Diagnosis of Short Stature

Is the child pathologically short or simply distressed because height is not close to the 50th percentile as desired by the patient or the parents? (do not over diagnose) Missing a diagnosis of pathologic poor growth may cause the patient to lose inches of final height or may allow progression of disease (do not under diagnose)

./ The patient's stature, ./ growth rate, or ./ height adjusted for midparentral height is sufficiently decreased, the following approach will be done for the diagnosis of the etiology of short stature.

Diagnosis of Short Stature

History Taking: Intrauterine course (milestones)

Birth size & weight - birth trauma Mental and physical development Dietary history in Symptoms of systemic diseases or drug intake
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Evaluation of psychological factors Family heights and age of pubertal maturation other siblings

Physical Examination
Height:

Accurate measurement of height is an essential part 0 f physical examina.~ti9~_n~.,.,...-"------,,-,:----.:~..,,.

-Upper segment, lower segment, arm span, and head circumference -When to consider that this child is short for age? -/ < Third percentile ./ More than 3.5 SO below the mean. -/ Relation to midparentral height < 2 SO -/ Growth velocity < 5 cm per year

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Length-for-age percentiles: --'- Boys, birth to 36 lTlonths

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Weight & BMI to asses nutritional state.

 Appearance Dysmorphic features (syndromes) Hypothyroid Cushingoid All systems must be examined.

Investigations:
Urine and stool analysis Serum electrolytes, calcium, blood glucose, renal and hepatic functions & ABG Complete blood count and sedimentation rate Serum free T4, and TSH

../Serum growth hormone basal and after

stimulation. The diagnosis of GH deficiency depends on demonstration of an Inadequate rise of serum GH after stimulation tests. Dynamic tests using Insulin, Clonidine, Arginine, GHRH, and Levodopa are used to stimulate GH secretion At least two provocative tests are needed to diagnose GHD . ./ IGFl and GHBPs can be used in diagnosing GH deficiency

Imaging Studies:
X-rays of the left wrist (bone age) to compare with standard charts. Any bone age more than 2 SD above or below the mean for chronologic age is out of the normal range. An MRI , and C'T of the brain may be obtained in children with growth hormone deficiency to rule out a brain tumor.

Treatment

of Short Stature:

Early therapeutic intervention is important. Therapy should begin before the child's growth process is complete. Treatment is directed at the cause of growth failure. Hormone replacement therapy may be necessary in children with hypothyroidism or growth hormone deficiency

Treatment of Growth Hormone Deficiency Biosynthetic growth hormone at a dose of 0.1- 0.3 mg/kg/wk (3 ID/mg), se; during the period of active growth before epiphyseal fusion. Older children do not respond as younger children, and may require larger doses. GH will not increase growth rate without adequate nutrition and euthyroid state.

New Modalities for Treatment of GHD

-Liquid formulations ,Pen-type delivery devices -Oral secretagogues -Long acting GH formulations -GH releasing hormone (short and long acting) -Inhaled GH delivery system.

Monitoring GH Therapy
Determination of growth response (change in height) every 3-4 months Measurements of serum IGF1 and I GFBP3 levels every 3-6 months Screening for potential side effects Evaluation of compliance Consideration of dose adjustment according to the response

GH Treatment of Other Forms of Short Stature

CRF
Turner's syndrome N oonan' s syndrome Down's syndrome Juvenile chronic arthritis

Other Uses ofGH

Normal aging (somatopause) ??? muscle mass& BMD Catabolic states Burn Tumor cachexia Major abdominal surgery AIDS Sepsis TPN

Side Effects of GH
Side effects of GH are minimal and rare
Pseudo tumor cerebri Slipped capital femoral epiphysis

DM
Recurrence of eNS tumor Development of leukemia Long term cancer risk Gynecomastia

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