The Calgary Guide to Understanding Disease @TheCalgaryGuide
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X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
X-Linked Agammaglobulinemia ... Signs of immunodeficiency ... humoral immunity Signs ... #XLinked #pathophysiology ... #immunology
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... metabolic abn #GrowthHormone ... #FeedbackLoop #endocrinology ... #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... fraction • HTN #GrowthHormone ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics