Endo 2 Treatments and Diagnosis Flashcards

Question

Insulinoma Management

Answer 1

Sx removal is rec Meds while waiting for sx or if CI to sx: Freq carb intake PO diazoxide (Proglycan) - K+ channel activator - inhibits secr of insulin Everolimus (Afinitor) - antitumor agent that induces insulin resisitance

Answer 2

Labs and Dx: ↑ BG ↑ fasting blood glucagon level > 150 pg/mL Management: Control BG Octreotide - inhibits glucagon and insulin Rec if single lesion is localized at time of dx

Answer 3

Dx: [serum VIP] > 75 pg/mL; confirm w/ repeat Management: Correct fluid, electrolyte, and vitamin imbalances octreotide - inhibits VIP - helps control D Sx excision of primary tumor, if no mets at diagnosis

Answer 4

MC - macroadenomas (>1 cm) Management: Selective transsphenoidal adenomectomy +/- RT Medical tx is the same as non-MEN1 tumors: PRLoma - DA agonist Excessive GH - octreotide - ↓ GH secr Excessive ACTH - pasireotide (Signifor) - inhibits ACTH secr

Answer 5

Meningioma Tumor of the meninges - often asympt Refer to neurosurgeon for sx vs non-sx mgmt Adrenal adenoma Often non-fxnal and benign Sx is only indicated if > 4 cm Carcinoid tumor Slow-growing tumor of the bronchi, GI tract, pancreas, or thymus Asympt until late in dz Sx excision is recommended

Answer 6

Gene mutation screening rec: ≥ 2 MEN1 assoc endo tumors 1st degree relatives w/ MEN1 mutation carrier even if asympt Genetic testing: Direct DNA testing for MEN1 gene mutations Prognosis: ↓ life expectancy w/ a 50% probability of death by 50y/o

Answer 7

Dx: Serum calcitonin - ↑ w/ palpable nodule FNA biopsy Genetic testing for RET gene mutation PET scan if mets is suspected Early mets - cervical lymph nodes Late mets - mediastinal nodes, lung, liver, trachea, adrenal, esophagus, and bone

Answer 8

Treatment: Total thyroidectomy followed by lifetime supplemental thyroid hormone Prophylactic total thyroidectomy should be offered to patients with (+)RET mutation w/o disease Avoid GLP-1 drugs

Answer 9

Dx- Plasma free metanephrines Urine-fractionated metanephrines and creatinine Clonidine suppression testing Non-contrast CT of adrenal gland PET scan - r/o malignancy Tx- Sx resection α-blockade at least 10-14d prior to Sx Pheos need to be removed prior to any other surgical procedures of MEN2 pts

Answer 10

Confirm tumor location w/ parathyroid nuclear scan Management: Sx removal: controversial btw partial and total parathyroidectomy: Partial: 3 1⁄2 glands removed → Risk of sx failure Total: all 4 glands w/wo autotransplantation → Risk of permanent hypoparathyroidism Hypercalcemia - nonsurgical treatment Oral cinacalcet (Sensipar) Avoid oral calcium and thiazide diuretics

Answer 11

MEN2 Screening Rec - RET mutation: All pts w/ MTC (despite FMHx) d/t de novo germline RET mutation Patients w/ bilat pheo or unilat pheo (esp w/ increased calcitonin levels)

Answer 12

Management - similar to MEN1 tumors as well on individual non-MEN tumor management recommendations

Answer 13

Polyglandular AI (PGA) Sundromes - rare immune endocrinopathies characterized by the coexistence of ≥ 2 endocrine gland insufficiencies that are based on AI mechanisms

Answer 14

Dx: * Based on presentation and lab diagnostics * 2 out of the 3 endocrinopathies confirmed on testing * Genetic analysis - AIRE gene mutations * confirm diagnosis * Antibodies to anti-interferon alpha and omega can be identified in 100% of patients Tx: * Mucocutaneous candidiasis - ketoconazole * Replacement of minerals/hormones as needed - calcium (parathyroid), thyroid, gonadal, adrenal * Increased risk of acute Addisonian crisis when initiating treatment of assoc endocrinopathies * (ensure patients are appropriately treated for adrenal insuff before treating other conditions)

Answer 15

Dx No specific genetic test to confirm dx clinical diagnosis Tx- Individual disease component tx: Graves dz- radioactive iodine, antithyroid medications, surgery Hormone replacement - thyroid, gonadal, adrenal Increased risk of acute Addisonian crisis when initiating treatment of associated endocrinopathies (ensure patients are appropriately treated for adrenal insufficiency before treating other conditions)

Answer 16

Dx: Based on typical presentation and lab diagnostics No specific genetic test to confirm dx Monitoring: Every 1-3yrs- screen for MC abnormalities Comprehensive H&P CBC, metabolic panel, TSH, and vitamin B12 levels

Answer 17

assess bone age - Xray Step 1: Initial Laboratory Evaluation Serum testosterone - ↑ in all cases Serum LH and FSH levels - ↑ in CPP low/normal in peripheral causes Step 2: Confirm CPP from peripheral etiologies: Indication - LH/FSH are borderline high ULN GnRH-analogue stimulation test: Rx: leuprolide - stimulates the anterior pituitary to release LH/FSH Results: ↑ in LH indicates CPP No rise in LH = peripheral etiology Step 3: Look for peripheral source: Serum hCG - ↑ in hCG tumor DHEA - ↑ in CAH and adrenal tumors 17α-hydroxyprogesterone - ↑ in CAH Genetic testing if concern for LH/Gsα mutations or if presentation is consistent with MAS Step 4: MRI to r/o CNS lesion w/ CPP or ↑ hCG OR CT chest/abd - r/o hCG tumor of the mediastinum, liver, or peritoneum or androgen-secreting adrenal tumor OR Testicular US - r/o Leydig-cell tumor

Answer 18

Treat underlying cause if known (CNS tumor) Idiopathic CPP: long-acting GnRH agonists - **Leuprolide** acetate MOA - chronic stimulation of the GnRH-R in pituitary → desensitization of the R and ↓ LH/FSH Initial stimulation ↑ LH/FSH and sex steroid prod Prolonged stimulation ↓ LH/FSH to prepubertal levels Effects: Stops early pubertal development delays bone maturation prevents early epiphyseal closure → ↑ final height Monitor: halting of s/s, suppression of LH/FSH/testosterone (puberty resumes after d/c of med)

Answer 19

Tumors - surgical removal Exogenous steroids - identify and remove source CAH - suppress androgen prod w/ glucocorticoids McCune-Albright syndrome and familial male-limited precocious puberty: Androgen-R antagonist (spironolactone) + aromatase inhibitors [anastrozole (Arimidex)] - blocks conversion of testosterone to estradiol Alt: Steroid synthesis inhibitor - ketoconazole - req high dosing leading to a risk of hepatotoxicity Goal: halt further sexual development and prevent premature closure of the epiphyseal plates

Answer 20

XRAY - bone age Bone age delayed and growth velocity is normal → CDGP Serum testosterone - low for age Gonadotropins: LH/FSH ↑ - primary hypogonadism or gonadal failure LH/FSH ↓ - secondary hypogonadism

Answer 21

Presumed congenital delay of growth and puberty (CDGP): Reassurance with f/u vs. testosterone therapy Consider testosterone if pt's self-esteem is affected d/t stature and/or prepubertal appearance Testosterone replacement therapy: Secondary hypogonadism - interrupted therapy after 6mo to determine if endogenous LH and FSH secretion has ensued Primary hypogonadism - indefinite therapy +/- aromatase inhibitor → greater final adult height

Answer 22

Testosterone therapy indications: Lack of puberty onset by 14y/o Primary testicular failure (hypergonadotropic hypogonadism) Severe hypogonadotropic hypogonadism of any etiology w/ serum testosterone levels < 150 ng/mL Age-related hypogonadism Condition Definition

Answer 23

Hypogonadal testing should be utilized ONLY when symptoms are present ONLY rec if at ≥ 3 s/s of androgen def w/ testosterone levels <200 ng/dL and benefits outweigh risk S/S: ED, poor morning erection, ↓ libido, depression, fatigue, and inability to perform vigorous activity Goal of therapy: maintenance of secondary sexual characteristics; ↑ libido; improved muscle strength, fat-free mass, and bone density

Answer 24

Malignancy will be unilateral, non-tender, and offset from areola Observe x 3 mo for regression If no regression begin 9-12mo of med therapy: Selective estrogen-R modulator (tamoxifen) Aromatase inhibitor - anastrozole (Arimidex) Sx for persistent or severe s/s > 12mo

Answer 25

Neonatal - reassurance, no intervention Pubertal - reassurance - s/s resolve w/i 1-2 yr Drug-induced - d/c therapy and monitor for improvement of s/s Androgen deficiency - testosterone therapy hCG tumor - imaging (CT/MRI) and refer to general surgeon

Answer 26

Restore testosterone levels, Dev and maintain secondary sexual characteristics and normal sexual fxn, Build and sustain normal bone and muscle mass, Assist in the proper psychosocial adjustment of adolescents w/ hypogonadism

Answer 27

* Eval pt 3-6mo after tx initiation, then annually * Monitory testosterone levels 3-6mo after initiation of tx * Check hematocrit (CBC) before starting, at 3-6mo, then annually * If hematocrit is > 54% stop tx until it is decreased → eval pt for hypoxia and OSA * Measure bone mineral density of lumbar spine/femoral neck after 1-2yrs of tx in hypogonadal men w/ osteoporosis Men ≥ 40y/o w/ baseline PSA > 0.6ng/mL, perform a digital rectal exam and check PSA before initiating tx, then at 3-6mo

Answer 28

CI: metastatic prostate CA, breast CA Caution w/ undiagnosed prostate nodule or induration, PSA > 4ng/mL, erythrocytosis (hematocrit > 50%), severe urinary tract s/s assoc w/ benign prostatic hypertrophy, uncontrolled CHF Guidelines: Avoid testosterone replacement in pts w/ mild vague s/s and borderline/low testosterone on occasion Trial tx should be avoided Testosterone therapy suppresses pituitary-testicular axis, spermatogenesis, and ↓ testicular