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Symptoms
by Keith Wong 05/14/2011
Symptoms
by Keith Wong
1. Fatigue and muscle weakness
1.1. Worsens while standing
2. Darkened skin colour (hyperpigmentation)
2.1. Tanned skin in places not exposed to sun
2.2. Old scars darken
2.3. Darkening common in creases of hands
3. Fever, headache
4. Nausea, vomiting, diarrhea, weight loss
5. Craving salty foods
6. Inability to smell or decreased ability to smell (anosmia)
7. Stunted Sexual Growth, Delayed Puberty
7.1. Male
7.1.1. Micropenis
7.2. Female
7.2.1. delayed secondary sexual characteristics (breasts)
8. Optical problems (ex. colour blindness, optic atrophy)
9. Chest pains
10. Suspected of: Addison's Disease
10.1. Hormone involved: ACTH (Adrenocorticotropic hormone)
10.1.1. Secreted by anterior pituitary gland
10.1.1.1. Secreted in response to CRH (Corticotropin releasing hormone)
10.1.2. Stimulates release of hormones related to stress responses
10.1.3. Targets adrenal gland
10.1.3.1. Binds to signal receptor on target cell, invoking a chemical response
10.1.4. Uses endocrine signaling
10.1.5. Composed of amino acids
10.2. Tests & Diagnosis
10.2.1. ACTH stimulation test (Short ACTH test)
10.2.1.1. Blood cortisol and urine cortisol levels are measured
10.2.1.1.1. Synthetic injection of ACTH is given
10.2.1.2. Determines if there is adrenal insufficiency
10.2.2. CRH Stimulation test (Long test)
10.2.2.1. Blood cortisol measured
10.2.2.1.1. Synthetic CRH injected intravenously
10.2.2.2. Determines cause of adrenal insufficiency
10.3. Treatment
10.3.1. Substitution of missing hormones
10.3.1.1. Cortisol replaced orally with hydrocortisone tablets
10.3.1.2. Aldosterone replaced with oral doses of a mineralocorticoid called fludrocortisone acetate
10.3.1.2.1. Advise to increase salt intake
10.4. Causes
10.4.1. Failure to produce adequate levels of cortisol
10.4.1.1. Disorder of adrenal glands (Primary adrenal insufficiency)
10.4.1.1.1. Gradual destruction of adrenal glands, caused by the body's own immune system
10.4.1.1.2. 70% occur because of autoimmune disorders, where the immune system attacks the body's own tissues or organs
10.4.1.1.3. Adrenal insufficiency occurs when 90% of the adrenal cortex has been destroyed
10.4.1.2. Inadequate secretion of ACTH by the pituitary gland (Secondary adrenal insufficiency)
10.4.1.2.1. More common than primary adrenal insufficiency
10.4.1.2.2. Without ACTH, cortisol production drops but not aldosterone
10.5. Addisonian Crisis
10.5.1. Severe case of Addison's, result of undiagnosed Addison's disease or intercurrent problem in someone who has Addison's
10.5.2. Severe symptoms
10.5.2.1. Sudden pain in legs and back
10.5.2.2. Severe vomiting and diarrhea resulting in dehydration
10.5.2.3. Severe lethargy
10.5.2.4. Confusion, slurred speech
10.5.2.5. Hypoglycemia
10.5.2.6. Convulsions
10.5.3. Treat with intravenous injections of hydrocortisone, saline and dextrose (sugar), treatment is immediate
10.5.3.1. When severity has decreased, treat with oral medication
11. Suspected of: Kallmann Syndrome
11.1. Hormone involved: LH (Lutenizing hormone)
11.1.1. Secreted by anterior pituitary gland
11.1.1.1. Release from pituitary gland controlled by GnRH (Gonadotropin releasing hormone)
11.1.1.1.1. New node
11.1.2. Targets gonads (testes, ovaries)
11.1.2.1. In females, acts on ovarian follicle, inducing ovulation and maintaining corpus luteum
11.1.2.2. In males, acts on Leydig cells of testes to produce testosterone
11.1.3. Glycoprotein
11.2. Tests & Diagnosis
11.2.1. Smell test to assess degree of anosmia
11.2.1.1. Absent or exceptionally weak sense of smell is an indicator of KS
11.2.2. Gene and heriditary tests
11.2.2.1. Family history is examined. KS is often inherited genetically
11.2.3. Blood tests
11.2.3.1. Tests for LH, FSH
11.3. Treatment
11.3.1. Hormone therapy (restore missing hormones)
11.3.1.1. In males, hCG or testosterone are adminstered
11.3.1.2. In females, progestins and estrogen are administered
11.4. Causes
11.4.1. KS is mainly genetically linked
11.4.1.1. Malfunction of genes KAL1, KAL2, KAL3
