Human Fit Height Course

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Investigation & Diagnosis



After detail history & examination whatever hormone deficiency is suspected is investigated.

For this we do following tests:
Hormone test: as growth hormones, thyroid (Free T4, Free T3, TSH), FSH, LH, testosterone, estradiol, IGF-1, IGFBP-3 etc.
Bio-chemical test: (Hb., ESR, GBP, Alkaline.Phosphatase, Calcium, Phosphorus, Urea, creatinine, Urine Protein, M/E ,Fasting urinary ph , Serum bicarbonate,Serum Potassium ,Serum protein, SGPT Stool Fat , Tests to diagnose other systemic diseases x-ray Skull, Bone age (skeletal age) test.
Short height due to Growth hormone deficiency: Growth hormone deficiency is one of the common causes of short height. Growth hormone formation becomes less in body due to inability of growth hormone secreting glands to make GH hormone from birth due to defect in gland functioning itself which is called conge***al growth hormone deficiency. Then other cause are those cases in which growth hormone deficiency occurs later in life due to some damage to growth hormone forming gland later in life such as due to idiopathic growth hormone deficiency , tumour or trauma. G.H. ineffectiveness, hypopituitarism, Isolated growth hormone deficiency, Biologically inactive growth hormone, acquired idiopathic growth hormone deficiency, psychosocial deprivation syndrome.
Clinical Feature: During infancy or childhood child may suffer with recurring irritability due to low blood sugar, Prolonged jaundice, small ge***al, cryptorchidism in male, During Child hood children with growth hormone deficiency present with short height, Childish look, obesity with prominent abdominal adiposity, prominent forehead, lower face is small, normal intelligence, normally active, and normal body proportions & no other disease that would cause growth failure, s*xual development is also often delayed, wrinkling of face or body, fatigue (Weakness), depression & decreased body strength, bone weakness etc. Diagnosis of short height due to growth hormone deficiency is made by low GH, IGF-1, IGF-BP-3.

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Child's History
What was the child's birth like?
How is the child's diet?
Has the child begun to show signs of puberty?
At what age did puberty signs begin?
Has the child always been on the small side of the growth charts?
Was the child growing normally and then the rate of growth began to slow?
What other symptoms are also present?



If the short stature appears to run in the family or is due to delayed growth, a bone age x-ray will be done. This test determines if the bone age is appropriate for the patient's age. For instance, if an 8-year- old child is only as tall as a 6 year old, the bone age x-ray would suggest that growth was merely delayed and that future height should be normal. Girls with short stature should have a cerotype done to check for certain genetic diseases such as Turner syndrome.



Other tests may include:
Complete blood count
Electrolyte levels

Although your health care provider keeps records of height and weight from routine examinations, you may find it helpful to keep your own records. You may want to bring these records to your health care provider's attention if the growth seems slow or the child seems small.

Approach to Diagnosis of Short Stature

Detailed History: First we take detail history about diet, past illness & other relevant history to reach on probable cause for shortness of height. Birth history (breech delivery, preterm), Height, Weight at birth, Early developmental milestones, Scholastic performance, Dietary intake (in present & past)
Any systemic disease (in present & past), History suggestive of Hypothyroidism, Cushing’s disease or syndrome, Growth hormone deficiency, History of steroid intake Psycho-social history, Family history of Short height & delayed growth & puberty (in parents, 1st & 2nd degree relatives) Old height & weight records.
Physical Examination: We look for anemia, signs of malnutrition, Rickets, Neck for goiter, then we do Systemic examination- Organomegaly & CVS, Respiratory system, Central Nervous system is examined for any cause in CNS & Intellect, Fundus for Papilloedema &optic-atrophy. We also Look for signs of Growth hormone deficiency, Hypothyroidism, for conge***al anomalies in face, neck, hand, chest, leg & body for primordial dwarf, turner syndrome, Measure Weight, calculate weight age, calculate relationship of weight age to height age.
If weight for height is less (weight. age less than height. age) i.e. child is underweight the chance of Nutritional short height or malabsorption as cause is more likely. If weight for height is more (i.e. weight. age > height. age) then chances of endocrine i.e. hormone disorder as cause for short height is more likely.

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Causes

Causes of short height are:
Hormone Disorder: Growth hormone deficiency, thyroid hormone deficiency, cortisol excess.
Mineral Disorder: Vitamin D, Zinc, Calcium, Iron deficiency, osteomalacia, rickets, hereditary (genetic).
Rickets (Vitamin D deficiency or hypophosphataemic skeletal dysplasia: (Achondroplasia, Hypochondroplasia) Chromosomal defect (as Downs's Syndrome, Turner Syndrome).
Systemic Diseases: CNS, Cardiac diseases, Renal tubular acidosis, kidney failure & Chronic Systemic diseases.
Chronic Renal disease: CRF, RTA.
Hematologic disease: Anemia d/t Thallasemia major sickel cell anemia ,Uncontrolled Diabetes.
Cardiac disease: Cynotic heart disease, CHF d/t any cause.


Familial short stature (genetic), Constitutional delayed growth with or without delayed puberty.
Malnutrition, anemia, Under nutrition (of calorie, protein, vitamin-D & Zinc)
Dysmorphic syndromes (Primordial dwarf): Russel Silver Syndrome, Noonan Syndrome ,Praderwilli Syndrome, Pseudohypoparathyroidism, LMB Synd, Progeria, Intrauterine growth retardation.
Psycho-social Dwarfism
Malabsorption: Celiac diseases, chron’s disease & Chronic Giardiasis.
Inborn errors of Metabolism (Mucopolysacharidosis, Galactosemia)
CNS Disease: Mental retardation
Idiopathic Short Stature