Metabolic and Endocrine Pathology

Question 1

What is hypopituitarism?

Answer 1

A conditions that occurs due to decreased production of one of the pituitary hormones, this is a rare disorders and the symptoms are dependent on age
-disorders include dwarfism, delayed growth, sexual and reproductive issues, and diabetes insipidus

Question 2

What is hyperpituatarism?

Answer 2

a condition where one or more of the pituitary hormones is overproduced, symptoms depend on which hormone is secreted too much and age of onset
-disorders include gigantism, hirsutism, galactorrhea (abnormal lactation in males or females), amenorrhea, infertility, and impotence

Question 3

What is Addison’s Disease?

What are the common signs and symptoms with this condition?

Answer 3

a form of adrenal dysfunction that presents with hypofunction of the adrenal cortex with subsequent decreased production of both cortisol and aldosterone

SxS include widespread metabolic dysfunction, hypotension, weakness, anorexia, weight loss, altered pigmentation, and, if left untreated, shock and death

Question 4

What is Cushing’s Syndrome?

What are the common signs and symptoms with this condition?

Answer 4

a form of adrenal dysfunction characterized by hyperfunction of the adrenal gland allowing for excessive amounts of cortisol production

SxS evolve over years and can included persistent hyperglycemia, growth failure, truncal obesity, purple abdominal striae, “moon shaped face”, “buffalo hump” at the base of the cervical spine, weakness, acne, HTN, and male gynecomastia as well as depression, memory loss, and poor concentration

Question 5

What is hypothyroidism?

Answer 5

a condition caused by decreased levels of thyroid hormones in the bloodstream which slows metabolic processes
-symptoms can include weakness, fatigue, decreased HR, weight gain, delayed puberty, and retarded growth and development

Question 6

What is hyperthyroidism?

Answer 6

a condition that arises due to excessive levels of thyroid hormones in the bloodstream
-symptoms can include increased nervousness, excessive sweating, weight loss, increased BP, myopathy, and an enlarged thyroid gland

Question 7

What is Grave’s Disease?

What are the common signs and symptoms with this condition?

Answer 7

the most specific cause of hyperthyroidism and is most common in women over 20yo but can occur in men as well and effect any age group

SxS include those of hyperthyroidism such as the presence of an enlarged thyroid gland (goiter) heat intolerance, nervousness, weight loss, tremor, and palpitations

Question 8

What is hypoparathyroidism?

Answer 8

a condition which occurs due to low levels of parathyroid hormone production

• symptoms may include hypocalcemia, neurological symptoms such as seizures, cognitive defects, short stature, tetany, muscle pain, and cramps
• treatment includes intravenous calcium injection

Question 9

What is hyperparathyroidism?

Answer 9

a condition that occurs due to excessive levels of parathyroid hormone production that leads to disruption of calcium, phosphate, and bone metabolism
-SxS include renal stones and kidney damage, depression, memory loss, muscle wasting, bone deformity, and myopathy

Question 10

What is Type 1 Diabetes Mellitus?

What are the common signs and symptoms with this condition?

Answer 10

occurs when the pancreas fails to produce enough or any insulin and is normally diagnosed in childhood but can occur at any age and is also known as insulin dependent or juvenile diabetes

SxS include rapid onset of symptoms such as weight loss, ketoacidosis, polyuria, polydipsia, blurred vision, dehydration, and fatigue

Question 11

What is Type 2 Diabetes Mellitus?

What are the common signs and symptoms with this condition?

Answer 11

typically occurs in the population over the age of 45 but there has been an increase in childhood cases, this form of diabetes is when the body becomes insensitive of the insulin it produces and it no longer has an effect

SxS are similar to type 1 DM (fatigue, weight loss, polyuria, blurred vision, etc.) but ketoacidosis is more rare due to the body still producing insulin

Question 12

What is the difference between primary and secondary male hypogonadism?

Answer 12

Primary hypogonadism is when there is a deficiency in testosterone secondary to failure of the testes to respond to FSH and LH

Secondary hypogonadism is when there is a failure of the hypothalamus or pituitary gland to produce hormones that will subsequently stimulate the production of testosterone

Question 13

What are the symptoms of male hypogonadism before and after puberty?

Answer 13

Before: sparse body hair, underdevelopment of skeletal muscle, long arms and legs secondary to a delay in the closure of epiphyseal growth plates

After: decreased libido, erectile dysfunction, infertility, decreased mood and cognitive skills, and sleep issues

Question 14

What is the most common cause of primary male hypogonadism?

Answer 14

Klinefelter’s Syndrome

Question 15

What is the difference between primary and secondary hypogonadism in females?

Answer 15

Primary: failure of gonads to produce amount of sex steroid sufficient to suppress secretion of LH and FSH at normal levels

Secondary: failure of hypothalamus or pituitary to produces hormones that stimulate production of estrogen

Question 16

What is the most common cause of primary hypogonadism in females?

Answer 16

Turner Syndrome

Question 17

What are the symptoms of female hypogonadism before and after puberty?

Answer 17

Before: gonadal dysgenesis, a short stature, failure to progress through puberty or primary amenorrhea and premature gonadal failure

After: secondary amenorrhea

Question 18

What is Metabolic Alkalosis?

What are the common signs and symptoms with this condition?

Answer 18

a condition that occurs when there is an increase in bicarbonate accumulation or an abnormal loss of acids and pH rises over 7.45

SxS include nausea, diarrhea, prolonged vomiting, confusion, muscle fasciculations, muscle cramping, convulsion, and hypoventilation and if left untreated patient can become comatose and have respiratory paralysis

Question 19

What is Metabolic Acidosis?

What are the common signs and symptoms with this condition?

Answer 19

A condition that occurs when there is an accumulation of acids due to an acid gain or bicarbonate loss and pH drops below 7.35

SxS include compensatory hyperventilation, vomiting, diarrhea, headache, weakness and malaise, and cardiac arrythmias

Question 20

What is Phenylketonuria (PKU)?

What are the common signs and symptoms with this condition?

Answer 20

a syndrome that consists of intellectual disability as well as behavioral and cognitive issues secondary to an elevation of serum phenylalanine and the brain is the primary organ to be affected, children who are tested for PKU at birth must have intervention if their levels are over 6 mg/dl

SxS include severe intellectual disability, gait disturbances, hyperactivity, psychoses, abnormal body odor, and display lighter features than other members of their family

Question 21

What is Tay-Sachs Disease?

What are the common signs and symptoms with this condition?

Answer 21

absence or deficiency of hexosaminidase A which produces an accumulation of gangliosides within the brain

SxS include missed developmental milestones at 6months old and will continue to deteriorate in motor and cognitive skills, and as symptoms progress lead to paralysis and death by age 5

Question 22

What is Wilson’s Disease?

What are the common signs and symptoms with this condition?

Answer 22

a rare inherited disorder that is most common in Eastern Europeans and southern Italians, typically develops in people under 40 and symptoms can develop in children typically between 4-6

SxS typically appear between 4 and 6 and include copper rings around their eyes, degenerative brain changes, hepatitis, cirrhosis of the liver, and ataxic gait patterns as well as over time developments of contractures and MSK deformities

Question 23

What is Osteomalacia?

What are the common signs and symptoms with this condition?

Answer 23

a metabolic condition where bones become soft secondary to a calcium or phosphorous deficiency, there is adequate bone matrix however insufficient calcification of the matrix due to the deficiency

SxS include a vague presentation of aching, fatigue and weight loss, myopathy and sensory polyneuropathy may also occur along with periarticular tenderness and pain, hyperkyphotic thoracic spine and bowed legs

Question 24

What is Osteoporosis?

What are the common signs and symptoms with this condition?

Answer 24

a metabolic condition in which there is decreased bone mass due to a decline in bone formation and an increase in bone resorption

SxS include compression or other fractures, low thoracic or lumbar pain, loss of lumbar lordosis, decreased height and dowager’s hump

Question 25

What is Paget’s Disease?

What are the common signs and symptoms with this condition?

Answer 25

metabolic condition characterized by heightened osteoclast activity making excess bone which lacks structural integrity and appears large but lacks strength

SxS include MSK pain, bony deformities, easily fracture bones, headaches, vertigo, hearing loss, and heart failure secondary to an increased heart output