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IV.

Pathophysiology

Mutations in G- proteins (alpha


subunit) in the GNAS1 gene on
chromosome 20q13 lead to activation

Pituitary Adenoma
-MRI of Pituitary gland 1.2 cm mass
-Skull xray enlargement of sella turcica

Increased Prolactin 32 Increased Growth Decreased TSH 0.32 Increased ACTH, Increased
ng/mL Hormone 100g OGTT GH uIU/mL, Decreased FT4 cortisol after 1mg
after 120 minutes 5ug/dL 0.21ng/dL Dexamethasone
suppression test 4ug/dL

CENTRAL HYPERCORTISOLISM
PROLACTINOMA ACROMEGALY HYPOTHYROIDSIM

Weight gain 30lbs Increased Fasting blood


Amenorrhea Obesity: sugar 156 mg/dL
IncreasedTAG 185 mg/dL Unexplained fatigue
Increased LDL 210 mg/dL Increased Acne
Decreased HDL 34 mg/dL

Growth promoting Anti- insulin effects


actions

Liver conversion to IGF Carbohydrate metabolism

Increased IGF 330 ng/dL Decreased glucose use

Increased linear growth: Increased blood glucose


Enlarging fingers FBS 156 mg/dL, HbA1c
Increased shoe size 8 mg/dL
Numbness and tingling
of hands
Wide spaced teeth
Sleep apnea
Thick nasolabial folds
Frontal bossing
Increased change in
facial features Increased
size and function of
organs (Thyromegaly)
Increased lean muscle

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