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Growth Hormone Deficiency
The congenital type of this deficiency is where's there's disruption to the GH-axis at the hypothalamus or pituitary. This can be due to genetic mutation or conditions where the pituitary is underdeveloped.
The acquire type of this deficiency is when it's secondary to infection, trauma, or surgery.
It presents with:
Neonates – Micropenis, hypoglycaemia, severe jaundice
Older infants – Poor growth, short stature, delayed puberty
It's investigated with:
IGF-1
GH stimulation test – GH levels checked after giving medication that should stimulate its release e.g. glucagon, insulin
MRI Brain for pituitary/hypothalamus pathology
It's managed with:
Daily sub-cut GH (Somatropin) injections
Close monitoring of height and development
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