Endo Path Clinical 2 Flashcards
2 month old baby comes in for her checkup. When you examine her, you find that she has an umbilical hernia, her tongue is enlarged and she has a short stature. What is your dx? What could have caused it? List 4 reasons. If she has a congenital defect, what could it be?
Cretinism. Also has mental retardation due to hypothyroidism. Causes include maternal hypothyroidism during early pregnancy, iodine deficiency, thyroid a genesis and dyshormonogenetic goiter. Thyroid peroxidase deficiency.
Mental slowness and enlarged tongue can be caused by this disease. When in infants what is it called? When in older children what is it?
Cretinism in infants and myxedema in older children.
8 year old boy comes in with an enlarged tongue and a deep voice. He has shortness of breath,and is easily tired. Blood work shows that he has high cholesterol. What’s going on with him? What causes these issues?
He has hypothyroidism. He has a decreased metabolic and sympathetic nervous system activity. Deep voice and enlarged tongue ae due to myxedema which are the accumulation of glycosaminoglycns in skin and soft tissue. Common causes are iodine deficiency, hashimoto thyroiditis, drugs lithium, or surgical removal.
A 37 year old female comes in from Tennessee states on her past symptoms two months ago that she had weight loss, tachycardia, and low cholesterol. Last week, she mentioned that she gained weight eve though her appetite has not changed? Her periods have been light and she has bouts of constipation. You do blood work to assess what is going on. What do you expect to find for her t4 and tsh hormone levels? What else would you find in her blood? What would you see on histology? What disease is she at risk for?
Hashimoto thyroiditis, autoimmune destruction of thyroid gland. Associated with HLA-DR5. Adequate iodine in TN. Initially hypothyroid progressing to hyperthyroid because of follicular destruction. Histologically, chronic inflammation with hurthle cells which are eosinophilic metaplasia of cells that line follicles, germinal centers . Low T4 and high TSH. Anti thyroglobulin and antithyroid peroxidase antibodies. B cell lymphoma.
Patient just had a flu two days ago. Symptoms were indicative of hyperthyroidism which converted to hypothyroidism. What would you find on histology?
This is subacute granulomatous de quervain thyroiditis. High ESR. Granulomatous thyroiditis following a viral infection.
Pt comes in with complaint of episodic HTN, headaches. Tachycardia and palpitations. Urine collection shows increased vanillymandelic acid and metanephrines. What is causing her symptoms? How would you treat her? What medication would you use before treatment? What other locations in the body are sites for this disease to manifest? What is this disease associated with?
Pheochromocytoma. Tumor of chromaffin cells causing symptoms due to epinephrine and NE. Tx is surgery. Presurgery treat with the non selective phenoxybenzamine (irreversible alpha blocker) to prevent hypertensive crisis. Other organs are bladder wall or organ of Zuckerkandl at inferior mesenteric artery root. Associated with MEN 2A and 2B, Von Hippel-Lindau disease, and neurofibromatosis type 1.
Asthmatic Pt comes in with signs of weakness and hypotension. She complains that she has muscle aches and has been having a craving for saltine crackers more than usual. When you ask her when, this started she said it was around the time her allbuterol pump ran out. What does she have? How would you diagnose her?
Adrenal insufficiency with symptoms arising due to secondary glucocorticoid withdrawal such as asthma medication. Use Metyrapone stimulation test which blocks cortisol synthesis and leads to ACTH increase in a normal person. If ACTH is not elevates, then adrenal insufficiency.
You are an emergency room attending and a child comes in with severe hypotension. You examine his chart and it shows that he had an infection two days ago. Blood work shows low cortisol levels. What would a histology of his adrenal glands show? What infection did he have few days ago? What is this disease called?
Waterhouse friedrichsen. Hemorrhagic necrosis of adrenal glands due to niesseria meningitidis infection.
Patient comes in with vomiting, diarrhea and hypotension. He mentioned that his skin looks a little tan even though he hasn’t left the house all winter. What disease does he have that explains his symptoms? If he was from Russia, what diseased would have led to this presentation?What would you expect his sodium and potassium levels to be?
Addition disease due to hyper pigmentation from high acth which is due to low cortisol. Hyponatremic and hyperkalemia. He would also have metabolic acidosis. In western world, Addison’s due to autoimmune destruction, in developing world, TB and metastatic lung cancer. Secondary adrenal insufficiency does not have hyper pigmentation.
You are an M3 and a baby comes to your peds rotation with very low blood pressure. Blood work shows that she is hypovolemic and hyponatremic. Why is she hypotensive? Her mother says that she is concerned that the baby does not have a normal looking vagina and it looks more like a penis? What enzyme deficiency is causing this? What would her ACTH levels look like? What would she present with if she was older.
Decreased aldosterone and cortisol leads to hypotension. Ambiguous genetelia because 21 hydroxylase deficiency shunts everything to the reticularis to make extra sex hormones. She would have hirsutism with menustral irregularities if she was older.
Pt comes in with high bp. You check her renin and aldosterone levels and they are low. Why is that? Would is her potassium level? What enzyme is not working properly?
11 beta hydroxylase is low, but 11 deoxycorticosterone is a weak mineralocorticoid that helps increase the blood pressure. She will be hypocalcemia because of the salt retention.
Pt comes in with high bp. You check her renin and aldosterone levels and they are low. Examination of her genital area shows a lack of pubic hairs. She also mentioned that she has not been menustration for a couple of months and fears that she might be pregnant. Why is that? Would is her potassium level? What enzyme is not working properly?
17 hydroxylase deficiency. This leads to the deoxycorticosterone to handle the blood pressure. Hypokalemic. Deficiency in the enzyme leads to low cortisol and sex hormones that explains the hypotension, amenorrhea and the pubic hair.
How would you screen for Congenital Adrenal Hyperplasia? How is It treated?
Serum 17 hydroxy progesterone will show it is increased in 21 and 11 hydroxylase deficiency and decreased in 17 hydroxylase deficiency. Treated with glucocorticoids or sex steroids if sex hormone pathway is affected.
37 year old woman presents with muscle weakness. She has thin hands and feet, but obese in the middle. She mentions that she has been getting sick a lot with the flu since her symptoms started. X-ray shows osteoporosis. You do a 24 hour urine collection and find that she has high cortisol levels. What disease does he have? What does her blood pressure show? Would you expect her aldosterone to be increased ?
Cushions syndrome presenting with buffalo hump, truncal obesity. Muscle weakness due to cortisol breaking down muscle for Gluconeogenesis. BIG FIB CORTISOL. Blood pressure will be high, Hypokalemic with metabolic acidosis because H plus K exchanger is not being utilized. LD dexomethasone suppresses cortisol production in normal individuals but won’t in Cushing syndrome pts. Aldosterone is not increased because high cortisol cross reacts with mineralocorticoid receptor
37 year old woman presents with muscle weakness. She has thin hands and feet, but obese in the middle. She mentions that she has been getting sick a lot with the flu since her symptoms started. X-ray shows osteoporosis. You do a 24 hour urine collection and find that she has high cortisol levels. What disease does he have? Why does she keep on getting sick?
Cushing syndrome. Always sick because cortisol leads to immune suppression by inhibition of mast cell histamine released inhibition of IL2 which prevents T cell growth, and PLA2, no arachidonic acid.
