Physio 4 Diseases Flashcards
autosomal dominant disorder
cause tumors in multiple endocrine tissues
Type 1, Type 2A & 2B
Multiple Endocrine Neoplasia (MEN)
Pituitary,
pancreatic
parathyroid
MEN gene
MEN Type 1
medullary thyroid cancer
pheochromocytoma
parathyroid hyperplasia
-REC gene
MEN Type 2A
Medullary thyroid cancer
pheochromocytoma
neuronal mucosa
-REC gene
MEN Type 2B
MEN type 2
-protooncotic gene mutation
-prophylactic thyroidectomy
REC mutation
overproduction of aldosterone
Conn’s Syndrome
- headache
- ascites
- nephrotic syndrome
- diuretic use
- hypokalemia causing muscle weakness
- nocturnal polyuria
- hand cramping
Conn’s Syndrome Symptoms
hypersecretion of cortisol
Cushing Syndrome
Truncal obesity with thin extremities Moonface Buffalo hump Supraclavicular fat pads Generalized muscle wasting and weakness Fragile skin that easily bruises Reddish-purple striae on the abdomen and upper thighs Hirsutism Hypertension ↑Na ↓Ca2+ and K+
Cushing syndrome symptoms
hyposecretion of adrenal cortex
Addison’s Disease
- bronze skin
- lethargy, muscle weakness
- weight loss
- postural hypotension
- dehydration
- emotional distrubances
Addison’s Disease symptoms
tumor of the adrenal medulla
-overproduction of catecholamines
Phenochromocytoma
Persistent Hypertension Increased Heart Rate, palpitations Weight loss Hyperglycemia, glucosuria, polyuria Pallor, tremor, nervousness Weakness, visual disturbance Pain Histamine test VMA test
phenochromocytoma Symptoms
adrenal gland failure due to bleeding into the adrenal gland
-often due to meningococcal infection
Waterhouse-Friderichsen syndrome
excessive activity of the thyroid gland
-graves disease
Hyperthyroidism
- jittery/shaky/nervous
- emotional lability
- insomnia
- rapid heart rate
- feeling hot
- weight loss
- menses with light flow
- bulging eyes
- skin plaques
Hyperthyroidism symptoms
underactivity of the thyroid gland
Hashimoto’s
Hypothyroidism
- Fatigue, lethargy
- Modest weight gain
- Dry, coarse skin
- Brittle hair
- cold intolerance
- Swelling of face, hands, and legs
- Constipation
- Menstrual irregularities
Hypothyroidism symptoms
failure of one or both testicles to descend into the scrotum
Cryptorchidism
XO
normal external female genitalia
-internal anatomy not developed
-short sturcture, low hairline, poor breast development, wide space nipples
Turner’s Syndrome
XXY
- undersized penis and testes
- typically sterile
- low interest in sex
- somewhat feminized features
-frontal baldness absent, less chest hair, breast development, feminine pubic hair, narrow shoulders, wide hips
Klinefelter Syndrome
