EBR 2023-2024 Flashcards
(28 cards)
Characteristics of benign adrenal mass
Low attenuation
Minimal change in HU after contrast administration (no contrast upta - likely adrenal cyst)
Duration of log term steroid use requiring slow taper regimen due to concern for adrenal insufficiency
> 4 weeks
Switch to hydrocortisone and taper by 5 mg every 2 weeks
SDHx screening recommendations
SDHA without personal or family history of associated tumors - no screening
SDHA with personal or family history of pheochromocytoma or paraganglioma, SDHB, SDHC, SDHD - whole body MRI, initial and regular metanephrine evaluation
17 hydroxylase deficiency
Hypertension and hypokalemia (due to shunting and increased production of adrenal mineralocorticoids, particularly deoxycorticosterone)
Lack of significant pubertal development (due to absence of sex steroids)
Do not have overt symptoms of glucocorticoid deficiency, as it is masked , in part by the increased mineralocorticoids and the presence of corticosterone as a glucocorticoid.
DST with or without dexamethasone levels?
No need to check dexamethasone levels unless patient is on CYP3A4 inducing medications.
If cortisol levels after DST are unexpectedly high, can repeat 1 mg DST with dexamethasone levels or use higher dexamethasone dose (2 mg).
Li Fraumeni Syndrome
Adrenocortical carcioma
Breast cancer
Osteosarcoma
TP53 gene
CYP3A4 inhibitors
Ritonavir - produce false negative DST results by increasing dexamethasone levels
Adrenocortical carcinoma - adjuvant therapy
Mitotane only
NCCAH - 17 hydroxy progesterone levels
17 hydroxy progesterone levels (morning follicular phase)
<200 ng/dl - excludes diagnosis
>1000 ng/dl - confirms diagnosis
200-1000 ng/dl - check cosyntropin stim test
3 Beta HSD2 deficiency
Check 17 hydroxy pregnenolone to cortisol ratio - elevated
!7 hydroxyprogesterone levels elevated
Testicular androgen rest tumors (TARTs) - hormonal pattern
Elevated androstenedione
Normal testosterone
Suppressed LH
Initially low FSH, later elevated due to decreased blood supply from compression of testicular massess -> irreversible damage to Sertoli and germ cells
Intensification of glucocorticoid therapy can allow regression of the rests and restoration of fertility, but take long time.
Surgical removal of TARTs often provides long term control for tumors but does not restore testicular function.
Poor prognostic markers for fertility in men with Classic CAH
TARTs, elevated FSH.
Primary malignancies associated with adrenal metastasis
Lung cnacer, Breast cancer, Gastrointestinal cancer and melanoma.
Licorice ingestion hormone profile4
low renin, low aldosterone
Glycyrrhizic acid -> Glycyrrhetinic acid -> inhibits 11 beta hydroxysteroid dehydrogenase -> decreased conversion of cortisol to cortisone (inactive) -> increase intrarenal cortisol levels ->provides free access to MR receptor -> potassium wasting, sodium retention, HTN -> suppression of RAr
APS type 1
Primary adrenal insufficiency, hypoparathyroidism, mucocutaneous candidiasis.
Other endocrine disorders - hypothyroidism, pernicious anemia
APS type 2
Primary adrenal insufficiency, hypothyroidism, Type 1 diabetes mellitus, Vitamin B12 deficiency, vitiligo.
Adrenoleukodystrophy
X linked recessive disorder
Adrenal insufficiency, myelopathy with sensory ataxia, neurologic bladder dysfunction
MEN 1
Pituitary tumors
Primary hyperparathyroidism
Pancreatic neuroendocrine tumors
Angiofibromas, collagenomas
MEN 2A
Hyperparathyridism
Medullary thyroid cancer
Bilateral pheochromocytomas
RET oncogene
MEN 2B
Bilateral pheochromocytomas
Medullary thyroid carcinoma
Mucosal neuromas
Marfanoid habitus
Thickened corneal nerves
Intestinal ganglioneuromatosis
RET oncogene
VHL syndrome
Bilateral pheochromocytomas
Retinal angiomas
Cerebellar hemangioblastoma
Epididymal cystadenoma
Renal and pancreatic cysts
Pancreatic islet cell neoplasms
Renal carcinoma
Neurofibromatosis type 1
Neurofibromas
Cafe-au-lait spots
Axillary and inguinal freckling
Iris hamartomas
Catecholamine secreting tumors (2%)
Carney complex
Spotty facial pigmentation (involving the vermillion borders of the lips and eyelids)
Cardiac myxomas
Cutaneous and mammary myxomas
Cushing syndrome due to primary pigmentary nodular adrneal disease
Testicular tumors
Schwannomas
Pituitary GH hypersecretion
PRKAR1A gene
When can we skip confirmatory testing for primary hyperaldosteronism
Hypokalemia, suppressed renin, aldo >20
