Steroid Hormone Diseases

Question 1

Addison’s Disease

Answer 1

Partial/Complete destruction of adrenal cortex. High CRH, High ACTH, low adrenal cortex hormones. Excess ACTH=possibility of hyperpigmentation

Question 2

Conn’s Syndrome

Answer 2

Adrenal cortex tumor causes overexpression of aldosterone–> water retetion and high BP

Question 3

Cushing’s Disease

Answer 3

results from excess ACTH (pituitary tumor) causing excess cortisol release. Signs: moon face, hyperglycemia, striae, insulin increase, buffalo hump, hyperpigmentation, excessive androgen production (masculinizaiton of females). Low CRH, High ACTH, high cortisol

Question 4

Cushing’s Syndrome

Answer 4

Results from excess cortisol (exogenous or adrenal tumor). Symptoms similar except we wouldn’t expect to see hyperpigmentation. Low CRH, low ACTH, high cortisol

Question 5

Primary Hypogonadism

Answer 5

Inability to synthesize testosterone–> testicular failure. Failure to develop secondary sex characteristics, or regression of those that already exist

Question 6

Secondary Hypogonadism

Answer 6

Testicular failure due to defective secretion of gonadotropins

Question 7

5-alpha reductase deficiency

Answer 7

Can’t produce DHT from testosterone, so internal genitalia are male but external genitalia are female. Inguinal testes present

Question 8

Complete Androgen Insensitivity Syndrome (CAIS)

Answer 8

Due to absence of functional androgen receptors in XY males. Patients will look externally female. High androgen production without feedback regulation. Breast development will occur

Question 9

Polycistic Ovarian Syndrome (POCS)

Answer 9

Overproduction of androgens due to insulin excess causes hiruitism, obestiy, irregular menses, impaired fertility (irregular secretion of LH and FSH)

Question 10

Congential Adrenal Hyperplasia due to 21-alpha hydroxylase deficiency

Answer 10

no cortisol, high ACTH, decrease in aldosterone, increased androstendione and testosterone (virilizaion in females), TARTS in males, shorter stature, precocious puberty

Question 11

Causes of 21-alpha hydroxylase deficiency

Answer 11

Non-functional pseudogene (CYP21A1) CAH patients have microconversion-body slowly converts gene to psuedogene either thru gene conversion or a recombination deletion of 30 kb on CYP21 during meiosis

Question 12

Salt wasting/late onset 21-hydroxylase CAH

Answer 12

Deletions/nonsense mutations that completely destroy enzyme activity: salt wasting CAH and virilization. Missense mutation (Ile172Asn) gives enzyme with 1-2% normal activity-just virilization. Missense mutations Val281Leu and Pro30Leu gives 2 AA substitutions, enzyme has 60% activity=NCAH

Question 13

Defect of 11B-hydroxylase

Answer 13

results in a buildup of deoxycorticosterone (DOC), deoxycortisol, resulting in excess androgen and low cortisol, hypertension, hypokalemia. They can still make DOC which has some mineralocorticoid activity

Question 14

17-alpha hydroxylase deficiency

Answer 14

Excess MCs, low GCs and sex steroids. Hypertension, hypokalemia, hypogonadism

Question 15

3B-HSD deficiency

Answer 15

Decreased cortisol, androgens, aldosterone, with cortisol and aldosterone deficiency symptoms.