SHORT STATURE

Investigations

Level 1 ( essential investigations):

Complete hemogram with ESR

Bone age

Urinalysis ( Microscopy, pH, Osmolality)

Stool ( parasites, steatorrhea, occult blood)

Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, venous gas, fasting sugar, albumin, transaminases)

Investigation:

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

BONE AGE ( BA :)

Bone age gives an idea as to what proportion of adult height has been achieved by the child & what is remaining potential for height gain

BA is delayed compared to chronological age in almost all causes of short stature

Exceptions: Familial short stature,

Precocious puberty

Level 2:

Serum thyroxine, TSH

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 3 investigations

Level 3:

Celiac serology ( anti- endomysial or anti- tissue transglutaminase antibodies)

Duodenal biopsy

GH stimulation test & serum insulin like GF-1 levels

GH stimulation test

GH deficiency is diagnosed by a low level of serum insulinlike growth factor-1 (IGF-1) in the presence of deficiency of 3 or more pituitary hormones.

Patients who have deficiency of 2 or less pituitary hormones or pituitary-hypothalamic disease with low IGF-1 levels require

stimulation tests to establish the diagnosis of GH deficiency.

The 2 most common tests are :

1. the insulin tolerance test (ITT)

2. combination of GH-releasing hormone (GHRH) and

arginine (GHRH-arginine test).

3. The glucagon stimulation test is a third option.

In patients with GH deficiency of hypothalamic origin (eg, irradiation), GHRH can stimulate the pituitary and therefore yields falsely normal results. In such cases using alternative stimulation tests is recommended

All stimulation tests are performed after an overnight fast and involve measuring serum growth hormone levels

Patients should be adequately replaced with other deficient pituitary hormones before performing testing for GH secretion.

ITT

In the ITT, insulin is administered intravenously at a dose of 0.1 U/kg (time 0) to produce a lowering of the plasma glucose level to less than 40 mg/dL (2.2 mmol/L). Glucose levels can be monitored by capillary samples every 15 minutes and once symptoms of hypoglycemia develop. A repeated dose of insulin can be administered if hypoglycemia does not develop by 30-60 minutes.

Serum glucose and serum GH levels are measured at times 0, 15, 30, 60, 90, and 120 minutes after administering insulin. GH deficiency is diagnosed if the peak GH level is less than 5.1 µg/L

The ITT should be undertaken by an experienced staff under the direct supervision of a physician. It should be avoided in patients with cardiovascular disease, cerebrovascular disease, or seizure disorders.

GHRH-arginine test

The GHRH-arginine can be used as an alternative to the ITT. GHRH is administered intravenously at a dose of 1 µg/kg body weight (time 0) followed by an intravenous infusion of 0.5 g/kg body weight (not to exceed 30 g) of arginine over 30 minutes. Serum GH is measured at -30, 0, 30, 60, 90, and 120 minutes. Because body mass index (BMI) can influence the GH response, the following criteria are used to establish the diagnosis of GH deficiency when using the GHRH-arginine test

Peak GH level is less than 11.1 µg/L in patients with BMI less than 25

Peak GH level is less than 8.1 µg/L in patients with BMI of 25 or greater but less than 30

Peak GH level is less than 4.1 µg/L in patients with BMI of 30 or greater

Glucagon test

The glucagon test can be used if GHRH is not available or the GHRH-arginine test is normal in the context of a high suspicion for GH deficiency and there is a contraindication to using the ITT.

Glucagon is administered intramuscularly at a dose of 1 mg (1.5 mg for patients who weigh >90 kg); GH levels are measured just before the injection and every 30 minutes for 4 hours. GH deficiency is diagnosed if the peak GH level is less than 3.1 µg/L

Comment IGFBP-3 IGF-1 GH spontaneous secretion

GHRH test

GH standard test

diagnosis

GH therapy ↓ ↓ ↓ ↓ ↓ GHD(pituitary)

GHRH therapy

↓ ↓ /n↓ n ↓ GHD (hypothalamic)

GH therapy ↓ ↓ n n n GHD (bioinactive GH)

Therapy with IGF-1 plus high GH doses

↓

↓

↑ ↑ ↑ GH resistance (IGF-1 impaired

generation)

Pattern of biochemical findings in varying disorders of GHD syndrome(primary and secondary disorders)

No therapy known to date

↑

↑

↑

↑

↑

IGF resistance (IGF receptor defect )

No GH therapy

↓

↓

↑

↑

↑

diabetes mellitus, fasting, hepatopathy

GH therapy

↑

/n↓

↑

↑

↑

CRF

No GH therapy

n /n↓

↓

↓

↓

Hypothyroidism, hypercortisolism

Ranke MB (ed): Diagnostics of Endocrine Function in Children and Adolescents. Basel, Karger, 2003, pp 107–128

www.slideshare.net/divyaanair/short-stature-ppt Short

stature ppt .... by divyaanair on Jan 06, 2011

http://emedicine.medscape.com/article/120767-workup 2013

http://reference.medscape.com/article/120767?src=medscapeapp-android&ref=email

refrences

General Screening Tests in the Evaluation of Abnormal Growth in Children

Test Function

Complete blood count with differential Evaluates for anemia, blood dyscrasia, and infections

Bone age

Basic metabolic panel Rules out renal disease and electrolyte abnormalities that could occur with Bartter syndrome, other renal or metabolic disorders, and diabetes insipidus

Liver function testing Assesses metabolic or infectious disorders associated with liver dysfunction

Urinalysis and urine pH level Assesses kidney function and rules out renal tubular acidosis

Erythrocyte sedimentation rate Evaluates for chronic inflammatory states

Focused Diagnostic Tests in the Evaluation of Abnormal Growth in Children

Suspected cause Diagnostic tests Ancillary tests

Celiac disease Celiac antibody panel: Endoscopy

Cushing disease Midnight serum cortisol, salivary cortisol, Dexamethasone suppression test

24-hour urinary free cortisol estimations

Cystic fibrosis Sweat chloride test —

GH deficiency IGF-I, IGF-binding protein 3 GH stimulation test

Hypothyroidism Free thyroxine, TSH —

Inflammatory disorders Sedimentation rate, C-reactive protein Endoscopy

Iron deficiency Ferritin Iron, TIBC

Turner syndrome Karyotype Echocardiography, renal ultrasonography

Vitamin D deficiency 25-hydroxyvitamin D, Wrist radiography

1,25-dihydroxyvitamin D, parathyroid hormone, ALK-P ,