SysPath: Endocrine System & Pituitary Disorders

Endocrine System Diseases

• Common diseases include Diabetes Mellitus, hypothyroidism, and obesity.
• Hypofunction results from loss of reserve, hyposecretion, agenesis, atrophy, or active destruction leading to lack/loss of gland function or inappropriate response to signals.
• Hyperfunction is caused by hypersecretion, loss of suppression, hyperstimulation, or hyper/neoplastic changes.
• Can lead to structural enlargement in a critical site or dysregulation of hormone release and/or inappropriate response to signals.

Disorders of the Pituitary

• Hyperpituitarism results in conditions like giantism or acromegaly (GH), hyperprolactinemia (Prolactin), and Cushing's disease (ACTH).
• Hypopituitarism leads to empty sella syndrome, pituitary dwarfism, and diabetes insipidus.

Hyperpituitarism

• Primary hypersecretion of pituitary hormones is commonly caused by a functional pituitary adenoma.
• This often leads to increased release of GH, prolactin, or ACTH.
• Shared signs and symptoms include visual field disturbances and headaches.

Giantism & Acromegaly

• Excessive growth conditions arise due to inappropriate GH release.
• Most commonly caused by pituitary adenoma.
• Giantism occurs if hypersecretion is before growth plates close, leading to excessive growth and height significantly above average.
• Acromegaly occurs if hypersecretion is after growth plates close, causing excessive thickening of appendages, without change in height.

Giantism

• Overproduction of growth hormone (GH) during childhood before epiphyseal plate closure.
• Extremely rare, with approximately 3-4 reported cases per million.
• Etiology is most commonly a GH-secreting pituitary adenoma.
• Signs & symptoms include abnormal and accelerated growth, mainly in the long bones.
• Complications include mobility issues, cardiomegaly, sleep apnea, and osteoarthritis, leading to reduced life expectancy.
• Treatment includes surgical resection of adenoma, radiation, or GH antagonists.
• Massage has no contraindications (CI's).

Acromegaly

• Overproduction of growth hormone (GH) during adult years, after epiphyseal plate closure.
• Less rare than giantism, but still rare, with one case per 25,000 adults.
• Etiology is most commonly a GH-secreting pituitary adenoma.
• Signs & symptoms include excessive growth in the hands, feet, and face, with bones becoming thicker and heavier.
• Common changes include a protruding jaw, thick fingers, increased number/size of skin glands, thick, coarse skin, and increased body odor.
• Diagnosis includes laboratory tests, specifically serum IGF-1 and the GH suppression test (gold standard).
• GH suppression test involves measuring GH levels 2 hours after oral glucose load; GH levels should fall after glucose administration.
• Treatment includes surgical resection of adenoma, radiation, or GH antagonists.
• Prognosis includes decreased life expectancy, but successful surgery may lead to a relatively normal life.
• Massage has no contraindications; inquire about pain.

Prolactinoma

• It is a benign, functioning pituitary tumor that secretes prolactin, causing hyperprolactinemia.
• The most common type of pituitary adenoma.
• Tumors range from microadenomas to large, expansile lesions with a tendency to calcify.
• Classification is based on efficiency (ability to create prolactin) and proportionality (size is congruent with serum prolactin).
• Risk factors are unknown, but genetics may play a factor in some cases.
• Occurs most commonly in people under 40, more commonly in those assigned female at birth.
• Signs & symptoms include headaches, amenorrhea, galactorrhea, infertility, hypogonadism, gynecomastia, loss of libido, impotence, and decreased bone density.
• Other symptoms include visual disturbances, vertigo, and vomiting.
• Diagnosis includes lab tests (serum PRL) and imaging (MRI preferred).
• Differential diagnosis includes stress, Rx drugs (dopamine antagonists, opiate & estrogen agonists), pregnancy, and breastfeeding.
• Treatment goals are to return serum PRL to normal, reduce tumor size, correct visual disturbances, and restore pituitary function.
• Treatment includes maintenance of stress, elimination of prolactin-inducing meds, medications (dopamine agonists), surgical removal, and radiation.
• Prognosis is generally good.
• Good surgical outcomes, corrects prolactin levels in about 90% of people with small prolactinomas and in 50% of people who have large tumors.
• Massage has no contraindications.

Cushing's Disease

• Also known as hypercortisolism.
• The cause is a benign pituitary adenoma that secretes excess adrenocorticotropic hormone (ACTH), causing adrenal hypersecretion of cortisol.
• No known risk factors.
• Rare, with 5-25 cases per million people per year.
• Most prevalent between 20 and 50 years.
• Signs & symptoms include a round face ("moon face"), central obesity, striae, "buffalo hump," acne, puffy eyes, thinning hair & skin, reduced immune function, hyperglycemia, and hypertension.
• Diagnosis includes lab tests (examine cortisol levels) and the dexamethasone suppression test.
• Imaging (MRI) also helps make a diagnosis.
• Treatment includes surgical excision of the tumor with or without radiation and cortisol antagonists.
• Management is similar to Cushing's Syndrome.
• Massage has no contraindications, unless bone density is also affected.

Cushing's Disease vs. Cushing's Syndrome

• Both are forms of hypercortisolism.
• Cushing's syndrome is a collection of signs and symptoms due to prolonged exposure to cortisol or corticosteroids, commonly caused by medications.
• Cushing's disease is a particular type of Cushing's syndrome, resulting from an ACTH-secreting pituitary tumor.

Hypopituitarism

• Decreased secretion of one or more pituitary hormones due to partial or complete loss of function.
• It can be caused by pituitary or hypothalamus disorders.
• The various clinical symptoms arise depending on the specific hormone deficiency and the underlying cause.
• Examples include decreased GH before puberty (pituitary dwarfism) and reduction in ADH production (diabetes insipidus).
• Causes include tumors, stroke, Sheehan syndrome, surgery, radiation, and infection.
• Symptoms are specific to the decreased hormones and the underlying cause with often a slow, vague, insidious onset.
• Decreases in TSH and ACTH are rare.
• Diagnosis is based on clinical picture, imaging, and basal/provocative laboratory tests.
• Treatment depends on the case.
• It generally involves tumor removal and hormone replacement.

Empty Sella Syndrome

• A rare condition in which the pituitary gland becomes flattened or shrinks due to issues with the contents within the sella turcica.
• Etiology involves damage to the gland or sella turcica due to other conditions or incidents.
• Causes: tumors, radiation therapy, head trauma, idiopathic intracranial hypertension, or Sheehan's syndrome.
• Signs & symptoms are specific to the decreased hormones and underlying cause.
• Frequent H/A is a common symptom.
• Diagnosis is often incidental on imaging (MRI or CT).
• Blood tests check hormone levels.
• Treatment involves hormone replacement therapy.
• Massage: consult with patient, causes and side effects may vary.

Pituitary Dwarfism

• An underproduction of growth hormone (GH) in childhood, causing short stature.
• Causes proportionate dwarfism.
• Affects 750 people per million.
• Etiology is idiopathic, or from trauma, pituitary tumors, or infections.
• Signs & symptoms include short stature, proportionate body features, and younger-looking face.
• Other symptoms include impaired hair and nail growth, delayed tooth development, and delayed puberty.
• Diagnosis is suspected due to lack of growth, and confirmed by X-rays of bone, blood tests (GH and IGF-1), growth hormone stimulation test, and MRI of pituitary.
• Treatment involves hormone replacement therapy.
• Massage has no contraindications.

Diabetes Insipidus

• Characterized by a lack of or a lack of response to antidiuretic hormone (ADH).
• Two types: central diabetes insipidus and nephrogenic diabetes insipidus.
• Central diabetes insipidus: posterior pituitary does not release enough ADH.
• Nephrogenic diabetes insipidus: posterior pituitary makes ADH, but the kidney does not respond to it.
• Etiology for Central DI involves idiopathic lack of production by the hypothalamus, primary/secondary tumors, and/or trauma.
• For Nephrogenic DI there is a defect in structures of kidneys so kidneys are unable to respond appropriately to ADH-defect.
• Causes: CKD, genetics
• Signs & symptoms: polyuria (>12L per day), dehydration, polydipsia, low blood pressure, and shock.
• Diagnosis is suspected in persons who produce large amounts of urine (24hr urine volume assessment) > 3L / day in adults.
• Serum chemistry lab tests check serum sodium and GTT and blood sugar levels to r/o DM.
• Treatment is vasopressin/desmopressin nasal spray.
• Dose is frequently changed to meet the body's requirements.
• It can cause fluid retention and edema.
• Does not work on nephrogenic DI.
• Prognosis for central DI is generally good with proper treatment and management.
• Massage has no contraindications.

Adrenal Gland Conditions

• The adrenal glands have two regions: an outer cortex and an inner medulla.
• The cortex consists of the zona glomerulosa and fasciculata, and produces aldosterone, cortisol, and androgens.
• Cortisol production is regulated by the hypothalamus: CRH --> anterior pituitary ACTH --> adrenal cortex.
• The medulla produces epinephrine and norepinephrine.
• Physical/emotional stress --> sympathetic stimulation --> adrenal medulla
• Adrenal gland conditions include Cushing's Syndrome, Adrenal Insufficiency, Hyperaldosteronism, and Pheochromocytoma.

Cushing's Syndrome

• This is a collection of signs and symptoms due to prolonged exposure to cortisol or corticosteroids.
• Etiology is the administration of exogenous glucocorticoids or ACTH, pituitary adenoma (Cushing's Disease), adrenal tumor or hyperplasia, and/or paraneoplastic syndrome.
• Signs & symptoms same as Cushing's Disease, including round face ("moon face"), central obesity, striae, "buffalo hump," acne, puffy eyes, and thinning hair.
• Diagnosis is suspected based on characteristic symptoms and confirmed via dexamethasone suppression test, 24hr urinary cortisol excretion, or late night serum/salivary cortisol.
• Treatment includes reduction of exogenous cortisol, cortisol-inhibiting medications, and surgical removal and/or radiation of tumors.
• Massage has no contraindications unless bone density is also affected.

Adrenal Insufficiency

• Rare endocrine disorder wherein the adrenal glands do not produce enough glucocorticoids and mineralocorticoids.
• Two main types: primary adrenal insufficiency (Addison's Disease) and secondary adrenal insufficiency.
• Primary adrenal insufficiency – the cause is in the adrenal gland.
• Secondary adrenal insufficiency – the cause is in the pituitary.
• Can affect any age (M/C is 30 – 50) and effects all sexes equally.
• Etiology for primary AI is congenital hypoplasia/hyperplasia, infection, autoimmune polyendocrinopathy, and metastatic carcinoma.
• The etiology for secondary AI is inflammation or neoplasm of hypothalamus/pituitary gland and long-term steroid administration.
• Initial symptoms include progressive weakness, easy fatigability, anorexia, weight loss, N/V/D and potential for hypoglycemia.
• Presents as hyperkalemia, hyponatremia, volume depletion, dehydration, and hypotension.
• Addison's presents as hyperpigmentation (bronzing).
• Any stress (infection/trauma/surgery) can evoke Adrenal (Addisonian) Crisis, a medical emergency.
• Signs of adrenal crisis are intractable vomiting, abdominal pain, hypotension, vascular collapse, coma, and death.
• Late diagnosis is common due to ambiguous symptoms.
• Diagnosis can be aided by physical stressors that make symptoms more obvious and may cause a crisis.
• Serum chemistry blood tests show low sodium, high potassium, and altered kidney function tests.
• Serum cortisol and ACTH levels are also measured.
• Treatment involves corticosteroids and IV fluids, starting with PO hydrocortisone or prednisone.
• IV or IM synthetic steroids are used if the disease is severe.
• Doses are divided throughout the day with increased dosages during illness or physical stress.
• Fludrocortisone is used to restore normal Na+/K+ excretion and fluid balance.
• Androgen replacement is not necessary.
• Treatment is lifelong.
• Massage has no contraindications.

Hyperaldosteronism

• Chronic, excessive secretion of aldosterone resulting in sodium and water retention and potassium excretion.
• It includes hypertension, hypernatremia, and hypokalemia.
• There are 2 main types (primary and secondary).
• Primary aldosteronism (Conn's Syndrome – the cause is in the adrenal gland.
• Secondary aldosteronism- the cause is elsewhere.
• Etiology for primary aldosteronism is a benign adrenal neoplasm, idiopathic adrenal hyperplasia.
• Secondary aldosteronism is decreased renal perfusion, arterial hypovolemia and edema, and/or pregnancy.
• Signs & symptoms include hypertension, hypokalemia, muscle weakness, muscle cramps, tingling, temporary paralysis, and/or H/A.
• Metabolic alkalosis, high pH -> hypocalcemia, convulsions, arrhythmia, tetany, paresthesia, Dyspnea, and weakness.
• Diagnosis involves aldosterone and renin ratio (Primary - increased aldosterone & decreased renin, Secondary increased of both)
• CT can confirm adrenal neoplasms.
• Treatment is based on the underlying cause.
• Surgical Adrenalectomy can be curative for adrenal adenomas.
• Aldosterone blocking drugs for bilateral adrenal involvement.
• K+ sparing diuretics are used to treat Spironolactone.
• Prognosis includes HTN and hypokalemia that increases the burden on heart which can cause Cardiac decompensation (CHF) and arrhythmias.
• Increased risk of stroke, heart disease, kidney failure
• Proper Tx and management results in excellent prognosis.
• Massage has no contraindications.

Pheochromocytoma

• Uncommon neoplasms of chromaffin cells resulting in overproduction of catecholamines.
• Most common symptom: hypertension.
• Rare, with 0.66 cases per 100,000 people per year.
• Most cases are idiopathic, but some have a genetic link.
• Signs & symptoms: abrupt elevation of BP, tachycardia, headache, excessive sweating, tremor, and constipation.
• Also included chest pain, abdominal pain, nervousness, excessive sweating, high blood sugar and sense of impending doom.
• Test for Hypertension with Serum and Urine to find increased catecholamines
• Diagnosis is suspected when HTN is seen in young children, is intermittent, or there other symptoms are present
• Confirmed by Serum and urine tests that reveal increased catecholamines or the increase HR upon beta-blocker ingestion.
• Treatment includes surgical removal but requires pre-surgical treatment with catecholamines.
• Followed by chemo if its malignant
• Prognosis is favorable when its localized
• Massage depends on conditions
• A hypertensive crisis is a medical emergency