Symptoms by Keith Wong

Symptoms

Fatigue and muscle weakness

Worsens while standing

Darkened skin colour (hyperpigmentation)

Tanned skin in places not exposed to sun

Old scars darken

Darkening common in creases of hands

Fever, headache

Nausea, vomiting, diarrhea, weight loss

Craving salty foods

Inability to smell or decreased ability to smell (anosmia)

Stunted Sexual Growth, Delayed Puberty

Male

Micropenis

Female

delayed secondary sexual characteristics (breasts)

Optical problems (ex. colour blindness, optic atrophy)

Chest pains

Suspected of: Addison's Disease

Hormone involved: ACTH (Adrenocorticotropic hormone)

Secreted by anterior pituitary gland, Secreted in response to CRH (Corticotropin releasing hormone)

Stimulates release of hormones related to stress responses

Targets adrenal gland, Binds to signal receptor on target cell, invoking a chemical response

Uses endocrine signaling

Composed of amino acids

Tests & Diagnosis

ACTH stimulation test (Short ACTH test), Blood cortisol and urine cortisol levels are measured, Synthetic injection of ACTH is given, Blood cortisol and urine cortisol levels are measured after 30 to 60 minutes, Healthy patients: Increased levels of cortisol Affected patients: No noticeable rise in level of cortisol - proceed to CRH stimulation test, Determines if there is adrenal insufficiency

CRH Stimulation test (Long test), Blood cortisol measured, Synthetic CRH injected intravenously, Blood cortisol levels measured after 30, 60, 90 and 120 minutes after injection, Primary adrenal insufficiency: High ACTH but no cortisol Secondary adrenal insufficiency: Deficient cortisol responses, absent or delayed ACTH response -Absent ACTH response: pituitary gland is the cause -Delayed ACTH response: hypothalamus is the cause, Determines cause of adrenal insufficiency

Treatment

Substitution of missing hormones, Cortisol replaced orally with hydrocortisone tablets, Aldosterone replaced with oral doses of a mineralocorticoid called fludrocortisone acetate, Advise to increase salt intake

Causes

Failure to produce adequate levels of cortisol, Disorder of adrenal glands (Primary adrenal insufficiency), Gradual destruction of adrenal glands, caused by the body's own immune system, 70% occur because of autoimmune disorders, where the immune system attacks the body's own tissues or organs, Adrenal insufficiency occurs when 90% of the adrenal cortex has been destroyed, Inadequate secretion of ACTH by the pituitary gland (Secondary adrenal insufficiency), More common than primary adrenal insufficiency, Without ACTH, cortisol production drops but not aldosterone

Addisonian Crisis

Severe case of Addison's, result of undiagnosed Addison's disease or intercurrent problem in someone who has Addison's

Severe symptoms, Sudden pain in legs and back, Severe vomiting and diarrhea resulting in dehydration, Severe lethargy, Confusion, slurred speech, Hypoglycemia, Convulsions

Treat with intravenous injections of hydrocortisone, saline and dextrose (sugar), treatment is immediate, When severity has decreased, treat with oral medication

Suspected of: Kallmann Syndrome

Hormone involved: LH (Lutenizing hormone)

Secreted by anterior pituitary gland, Release from pituitary gland controlled by GnRH (Gonadotropin releasing hormone), New node

Targets gonads (testes, ovaries), In females, acts on ovarian follicle, inducing ovulation and maintaining corpus luteum, In males, acts on Leydig cells of testes to produce testosterone

Glycoprotein

Tests & Diagnosis

Smell test to assess degree of anosmia, Absent or exceptionally weak sense of smell is an indicator of KS

Gene and heriditary tests, Family history is examined. KS is often inherited genetically

Blood tests, Tests for LH, FSH

Treatment

Hormone therapy (restore missing hormones), In males, hCG or testosterone are adminstered, In females, progestins and estrogen are administered

Causes

KS is mainly genetically linked, Malfunction of genes KAL1, KAL2, KAL3