new_n_lost
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A 27-year-old white woman was admitted 2 days ago through the emergency room for seizures. She has a history of moderate alcohol use. Two weeks ago she received benzathine penicillin for secondary syphilis. She is complaining of muscle cramps, weakness, and headache. She received 1 g of phenytoin on the day of admission and is now taking 100 mg three times a day. She is also taking acetaminophen, multivitamins, and tapering doses of chlordiazepoxide. There is a history of seizures in her family. She is 5 feet tall and weighs 120 pounds. Her blood pressure is 130/80 mm Hg; pulse is 90 beats/minute. The rest of the physical exam is normal except for a round face, a short neck, short fourth and fifth metacarpals, and bilateral cataracts. Abnormal labs include a calcium of 1.5 mmol/L (normal range, 2.2-2.6 mmol/L), phosphorus of 1.7 mmol/L (normal range, 0.8-1.4 mmol/L), and an intact parathyroid hormone (PTH) of 200 pg/mL (normal range, 15-65). Which of the following is most likely?
A) Hypothyroidism
B) Hypogonadism
C) Basal ganglia calcification
D) Mental retardation
E) All of the above
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| robin082006
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sound like a heriditary disease but i do not know what it is.
there is lots of problem for this disease so I may guess that the answer is E
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| neuroblastoma
Forum Guru
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E..
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| nadiabarati
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B
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| vanshita
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don' you u think so itlooks like pseudohyopoprathrodism
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| new_n_lost
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Answer: E
Explanation: The findings of Albright's hereditary osteodystrophy (short stature, brachydactyly, and soft tissue calcification) along with severe hypocalcemia and elevated PTH are diagnostic of pseudo hyperparathyroidism (Type IA). This is an autosomal-dominant disorder resulting from a G protein (Gs) defect, which leads to PTH resistance. Hypothyroidism and ovarian failure are also seen because Gs also couples to TSH and gonadotropin receptor signaling, respectively. Mental retardation is seen in 70% of cases
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FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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