The document discusses growth hormone (GH) deficiency. It notes that GH is produced by the pituitary and regulates growth. GH secretion peaks during puberty then declines with age. Causes of GH deficiency include genetic factors, tumors, injuries and infections. Clinical features include short stature, delayed development, and body proportions differences. Evaluation involves assessing growth rates and examinations. Treatment is usually GH injections, aimed at restoring normal growth rates. Response is monitored through height velocity measurements.

1. Presented by:
Anish Dhakal
2nd July, 2019

2. Growth Hormone (GH)
• Most abundant anterior pituitary hormone
• Produced by the pituitary somatotroph cells
• Production begins early in fetal life and
continues throughout the life

4. Physiology of GH
• Hypothalamic + Peripheral factors 
Somatotrophs  Hypothalamic growth hormone-
releasing hormone (GHRH) and somatostatin
(SRIH) stimulate and inhibit GH secretion
• These hormones act by binding to specific cell-
surface receptors on the somatotroph cells
• Daily GH secretory rates decline from a peak of
about 150 mcg/kg during puberty to about 25
mcg/kg by age 55 years

5. Causes of GHD
• Congenital
• Accquired

6. Congenital Causes:
Genetic
Isolated GH deficiency
1. Type I: Autosomal
recessive
2. Type II: Autosomal
dominant
3. Type III: X-linked recessive
Multiple pituitary
deficiencies
1. Type I: Autosomal
recessive
2. Type II: X-linked
Idiopathic GHRH deficiency
 Developmental defects
 Pituitary aplasia
 Pituitary hypoplasia
 Anencephaly
 Midfacial anomalies

7. Acquired Causes:
• Tumors
– Hypothalamic, pituitary and other intracranial tumors
• Irradiation
• Infections
– Encephalitis, meningitis, tuberculosis
• Infiltration
– Histiocytes, hemochromatosis, sarcoidosis
• Injury
– Perinatal insult (breech), head injury, surgery
• Vascular
– Aneurysm, infarction

8. Clinical Features
• Normal growth at birth
• Growth retardation apparent at 1 year
• Body proportion: Normal
• Overweight over height with markedly
increased subcutaneous fat
• Teeth development is delayed
• Doll like facial appearance
• Delayed bone age: Height age< Bone age and
Chronological age

9. Clinical Features
• Mid-facial crowding
• Round facies
• Mild Obesity
• Immature facial
appearance
• Depressed nasal bridge
• Frontal bossing
• Prominent philtrum
• High pitched voice
• Increased skin fold
thickness
• Truncal obesity
• Single central incisor
• Hypoplastic penis and
scrotum

10. • Resistance to growth hormone action
–Growth hormone insensitivity or Laron
syndrome
• Severe growth retardation and elevated baseline
GH levels

12. History
• Perinatal history, birth weight and length
• Early indicators of GHD
– History of birth asphyxia, breech presentation,
neonatal hypoglycemia and prolonged jaundice
• Features of chronic illness, CVS, pulmonary
problems, malnutrition and chronic raised
intracranial tension
• Rule out other causes: Diabetes, Renal tubular
acidosis, Hypothyroidism
• Family history: Familial Short Stature

14. Evaluation
• No work up
– Height > -2 SDS
– Growth velocity above 25th percentile
• Immediate evaluation
– Height - 3 SDS
– Growth velocity below 25th percentile
• Follow up
– Height between -2 to -3 SDS

15. Examination
• Anthropometry:
Weight, weight for height, head circumference
– Body Proportion
• Lower Segment (LS) : Symphysis Pubis to feet
• Upper Segment (US) : Length – LS
– US : LS - 1.7: 1 at birth  Decrease 0.07-0.1 per year
– 1 : 1 at 7- 10 years of age

16. Examination
1. US : LS  Increases in hypothyroidism,
achondroplasia and Turner’s syndrome
2. US : LS  Decreases in Morquio syndrome and
spondyloepiphyseal dysplasia
3. US : LS  Normal in growth hormone deficiency

18. Management
• Correct underlying cause & adequate nutrition
intake
• Nonspecific
– High protein & calorie diet
– Increase physical activity
– Correct iron & vitamin deficiencies
– Zinc supplementation 10 mg/day for 3-6 months

19. Management
• Growth hormone
– Injection 25-50 microgram/kg/day at night-time
till epiphyseal closure
– Increase height by 20-30 cm
– Very expensive, start if only can be given for at
least 2 years
 Short course of testosterone in boys with
constitutional delay of puberty and growth
 Bone lengthening ( Ilizarov tehnique)

20. Growth Velocity Expected:
●0 to 6 months – 1 inch (2.5 cm) per month
●7 to 12 months – 0.5 inches (1.25 cm) per month
●12 to 24 months – Usually >4 inches (10 cm) per
year
●24 to 36 months – 3 inches (8 cm) per year
●36 to 48 months – 2.75 inches (7 cm) per year
●4 to 10 years – 2 to 2.4 inches (5 to 6 cm) per year

21. • The child's height velocity should be compared with
curves showing normal height velocity for age in
children without GH deficiency (figure: Age V/S Growth
Velocity)
• During the initial "catch-up" growth period, the
75th percentile curve for height velocity is an
appropriate target to define an adequate growth
response to GH.
• Catch-up growth should continue until the child's
height percentile is in the expected range (eg, at the
height percentile corresponding to the midparental
height).

24. Is the GH response adequate?

25. Monitoring of adequacy of GH therapy

26. Dosing during puberty:
• If a prepubertal patient initially responds well to
GH treatment but then fails to achieve the
expected height velocity of the pubertal growth
spurt, a temporary increase in GH dose (eg, to
70 to 100 micrograms/kg/day) has been
suggested
• However, the 2016 GH consensus guidelines
recommend against the routine use of this
dosing paradigm because the safety and efficacy
are not established.

27. Growth Hormone Analogs
• Genotropin, humatropen, nutropin
• Subcutaneous, daily doses
• Significant interaction with insulin
• Contraindicated in pediatric patients with closed
epiphyses
• Supraphysiologic levels maintained for 18-20
hours
• Plays role in growth of linear bone, skeletal
muscle and organs by stimulating chondrocyte
proliferation and differentiation

28. • References:
– Essential Pediatrics 8th Edition, OP Ghai
– Nelson Textbook of Pediatrics 20th Edition
– https://www.uptodate.com/contents/normal-
growth-patterns-in-infants-and-prepubertal-
children, N. Juliena, 2018
– https://www.uptodate.com/contents/diagnostic-
approach-to-children-and-adolescents-with-short-
stature, R. Alan et.al

29. Thank You