Endocrine Test II
With bilateral diffuse hyperplasia of the adrenal glands, what tops your differential diagnosis?
ACTH dependent cushing syndrome ACTH secreting tumor (pituitary or small cell lung)
A patient presents for a chief complaint of fragibility and weakness. Upon exam you notice areas of hyperpigmentation. What tops your differential diagnosis. What labs would you order next?
Addison Disease CMP to check for hyponatremia, hyperkalemia, hypotnesion, and hypoglycemia
Where do neuroblastomas arise?
Adrenal Medula Sympathetic ganglia neural crest cells
Adrenocortical Carcinomas have a tendency to invade?
Adrenal vein, vena cava and lymphatics
A large, well circumscribed nodule located on the adrenal gland that is yellow and produces cortisol is most likely a(n)?
Adrenocortical Adenoma
Neoplasms of the adrenal cortex are most likely?
Adrenocortical Adenomas
A functional neoplasm that causes virilization is most likely a(n)?
Adrenocortical Carcinoma
Adrenal Gland biopsy reveals well differentiated cells that have bizarre giant cell inclusions. what is the most likely diagnosis?
Adrenocortical carcinoma
Beckwith-Wiedemann syndrome predisposes you to multiple tumors including Wilms tumors and?
Adrenocortical carcinomas
Large unencapsulated largely invasive tumor with centers of necrosis found in the adrenal gland are most likely?
Adrenocortical carcinomas
What does the Zona Glomerulosa produce in the adrenal gland?
Aldosterone
What is the treatment for bilateral anorchia?
Androgen replacement
What is the treatment of kleinfelter syndrome?
Androgen replacement Cosmetic surgery for breasts
What does the Zona Raticularis produce in the adrenal gland?
Androgens (Testosterone, DHT, DHEA)
Adult leydig cell failure is known as?
Andropause
40% of Neuroblastomas occur in the adrenal medulla, where do the other 60% occur?
Anywhere along the sympathetic chain including the brain
What is the most common cause of primary adrenal insufficiency in developed countries?
Autoimmune adrenalitis
What disease is associated with the loss of the AIRE gene?
Autoimmune adrenalitis (APS1)
What two drugs would you use to decrease prolactin levels?
Bromocriptine Cabergoline
Which gene is lost or dysfunctional in 21-alpha-hydroxylase deficiency?
CYP 21A2
Which dopamine agonist has greater specificity for the D2 receptor and a 65 hour half life?
Cabergoline
What does the adrenal medulla produce?
Catecholamines (Epinephrine, Norepinephrine)
Which drug delays LH with no affect on FSH and is used to inhibit premature LH surges in women?
Cetrorelix
What cell line does pheochromocytoma come from?
Chromaffin
Chryptorchidism can often be a sign of what more serious condition?
Congenital Adrenal Hyperplasia
What does exogenous administration of corticosteroids due to the adrenal gland?
Cortical atrophy
What is the most common tumor causing a deficit in GnRH, LH or FSH?
Craniopharyngioma
Patient presents with hypertension and a widened face, you also notice a slight hump between the shoulder blades. WHat tops your differential diagnosis?
Cushing Syndrome
What test best differentiates between the different forms of cushing syndrome?
Dexamethasone Suppresion test and ACTH levels
What is an oral glucose suppression test used for?
Diagnosis of gigantism Oral glucose should inhibit serum growth hormone levels.
What defines a cushing syndrome?
Excess glucocorticoids (cortisol)
What is the treatment for 21-alpha-hydoxylase deficiency?
Exogenous administration of glucocorticoids and aldosterone.
What is the most common cause of cushing syndrome?
Exogenous steroid administration
What are the uses of follitropin and urofollitropin?
FSH analog used in reproductive assisstance
What are the FSH, LH, and testosterone levels in a patient with bilateral anorchia?
FSH and LH high Testosterone low
What are the FSH, LH, and testosterone levels in patient with kleinfelter syndrome?
FSH and LH high Testosterone low
What is the hormone profile in a patient with myotonic dystrophy?
FSH is elevated
What are the three layers of the adrenal gland?
GFR Glomerulosa Fasiculata Reticularis
If first trimester androgen deficiency is present, what phenotypically presents?
Genital ambiguity
What does the Zona Fasiculata produce in the adrenal gland?
Glucocorticoids (Cortisol)
What do alpha cells secrete in the pancreas?
Glucogon
Which drug has an extremely short half life (2-4 minutes) and is used primarily to test pituitary response, secreting LH and FSH?
Gonadorelin
Is near diploidy or hyper-diploidy associated with a better prognosis in a neuroblastoma?
Hyper-diploidy
What is the earliest clinical manifestation of pituitary adenoma in an adult male?
Hypogonadism
What type of endocrinopaty is prader-willi syndrome?
Hypogonadotropic hypogonadism
Will ACTH be increased or decreased in 21-alpha-hydroxylase deficiency?
Increased causing hypertophy of the adrenal gland due to lack of feedback inhibition from cortisol and aldosterone.
If androgen deficiency is present post-puberty, what phenotypically presents?
Infertility Fatigue Erectile Dysfunction Decreased Libido Decreased facial hair (late) Wrinkles i corners of mouth and eyes (late)
What is the key advantage of degarelix over leuprolide?
Inhibits FSH and LH without the testosterone flare.
What do beta cells secrete in the pancreas?
Insulin
If patient presents with olfactory deficit and gonadotropin deficiency, what tops your differential diagnosis?
Kallman Syndrome
Histrelin acetate is synthetic GnRH that stimulates ___________ to reduce testosterone levels and treat _________.
LH Prostate cancer
Which drug is an analog of GnRH and popular for treating endometriosis, breast cancer and advanced prostate cancer?
Leuprolide
Which drug may produce a testosterone flare and which drug is used to treat the flare?
Leuprolide Flutamide
What diagnostic modality is used to locate the testical in chryptorchidism?
MRI venography
If third trimester androgen deficiency is present, what phenotypically presents?
Micro penis or Chyrptorchidism
Pheochromocytomas are often associated with which syndrome causing a mutation in the RET gene?
Multiple Endocrine Neoplasia (2A,2B)
If an 18 year old balding male presents with early wrinkling and progressive muscle weakness, what tops your differential diagnosis?
Myotonic dystophy
What is used to treat precocious puberty, is available in a nasal spray and stimulates the pituitary release of LH and FSH ,in weeks leads to reduced release of gonadal steroids
Nafarelin
A classic "small blue round cell tumor" that arises in the adrenal medulla is?
Neuroblastoma
A one year old patient presents with ecchymosis and proptosis and slight blue nodules on skin. What tops your differential diagnosis?
Neuroblastoma
Histologically, a tumor that has homer-wright pseudorosettes (small blue cells arranged around neuropil) is most likely a?
Neuroblastoma
What is the most common extra cranial solid tumor of childhood?
Neuroblastoma of adrenal medulla
What clinical differences present between addison disease and secondary adrenocortical insufficiency?
No hyperpigmentation and signs of salt wasting in secondary adrenocortical insufficiency.
If a male patient presents with short stature, webbed neck, bleeding diathesis, and cubitus valgus, what tops your differential diagnosis?
Noonan Syndrome
If the PTPN11 gene on chromosome 12 is dysfunctional, what syndrome presents?
Noonan Syndrome
What is the device to measure scrotal development called?
Orchiometer
Li-Fraumeni syndrome predisposes patients to neoplasms including adrenocortical carcinoma by knocking out which gene?
P53
An adrenal biopsy comes back with a tymor mass of about 100 grams and with nests of chromaffin cells called zellballen and salt and pepper nuclei. What is at the top of your differential diagnosis
Pheochromocytoma
Under histology slide of an adrenal gland, you notice a well circumscribed, yellow, lipid laden cells with spironolactone bodies. What tops your differential diagnosis?
Pituitary Adenoma (Aldosterone)
If androgen deficiency is present prior to puberty, what phenotypically presents?
Poor Secondary sexual development Eunuchoid skeletal devlopment
If a patient presents with short stature, an insatiable appetite, almond shaped eyes, and an undescended testicle, what tops your differential diagnosis?
Prader-Willi Syndrome
What is Conn Syndrome?
Primary adenoma of the adrenals resulting in excess secretion of aldosterone
What is Addison's disease?
Primary chronic adrenocorticol insufficiency
What are common causes of secondary hyperaldosteronism?
Renal artery stenosis Congestive heart failure Pregnancy Cirrhosis Nephrotic Syndrome
How would you differentiate between primary and secondary hyperaldosteronism?
Renin, angiotensin levels in the serum (Decreased in primary, Increased in secondary)
To diagnose a testosterone deficiency how many testosterone tests are needed?
Screen first, the three sequential tests in the same morning.
How would you differentiate bilateral chryptorchidism from anorchia?
Serum FSH, LH, and testosterone levels (High FSH, LH in anorchia and no testosterone response)
What is Waterhouse-friderichsen syndrome?
Severe adrenal hemorrhage due to overwhelming bacterial infection
How do TB, AIDS, and fungal infections affect the adrenal glands?
Severe infections can cause destruction of the gland leading to addison's disease
What are problems associated with exogenous testosterone replacement?
Sleep apnea Loss of height (before age 13) Reduced HDL
What do delta cells secrete in the pancreas?
Somatostatin
Chryptorchidism leads to a higher incidence of what?
Testicular neoplasm
Which hormone is produced in excess in 21-alpha-hydroxylase deficiency?
Testosterone
Which four laboratory tests should be ordered to diagnose or exclude hormonal involvement in decreased semen volume?
Testosterone FSH LH Prolactin
What is the treatment of a pituitary adenoma in an adult male?
Testosterone replacement
What are contraindications for using dopamine agonists?
Uncontrolled Hypertension Pregnancy Coronary Artery Disease
Which drug is synthesized from the urine of post-menopausal women and is used as an FSH analog?
Urofollitropin
If a patient presents with inability to conceive for one year, what maneuver may you ask him to perform to check for varicocele?
Valsalva
What is bilateral anorchia?
Vanishing testes Undescended testes at birth No secondary sexual characteristics at puberty
What typically arises as a result of incompetent internal spermatic vein?
Varicocele?
What adrenal complication is associated with neisseria meningitidis?
Waterhouse-Friderichsend Syndrome
What is an indication to perform a testicular biopsy?
When testes are normal size and consistency in spite of azoospermia
When do symptoms of addison's disease typically present?
With >90% destruction of the adrenal gland
Which disease contains variable numbers of CAG repeats?
XXY, kleinfelter syndrome
Which form of cushing syndrome is suppressed my administration of dexamethasone?
excess ACTH from the pituitary gland
What is the rule of 10's in relation to pheochromocytomas (5)
10% are extra adrenal 10% bilateral 10% biologically malignant 10% have no hypertension 10% are in children
How long must you wait before obtaining a semen sample for harvest?
2-7 days
What is the most common form of Congenital Adrenal Hyperplasia?
21-alpha-hydroxylase deficiency
What test best diagnosis cushing syndrome?
24 hour urine free cortisol
What is the karyotype for Noonan Syndrome
46XY
