Diego Casali
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A 27 - year old woman presents to a new physician with muscle cramping and spasm. On physical examination, the physician notes shortened fourth and fifth metacarpals and metatarsals, short stature, a round face and abnormal teeth. She has positive Chvostek's and Trousseau's signs. Laboratory studies show a decreased serum Ca2+ level and a significantly elevated parathyroid hormone level. There is no evidence of renal disease, thus decreasing the likelihood of renal osteodystrophy. Which of the following is the most common mode of inheritance of this patien's disease?
A. Autosomal dominant
B. Autosomal recessive
C. Mitochondrial
D. X - linked dominant
E. X - linked recessive
I think the correct answer is B, but the explanation says the correct one is A. Is there an error, isn't it?
P.S. First Aid and BRS Pathology say pseudohypoparathyroidism is autosomal recessive, whereas Goljan says it's sex - linked dominant (Pathology Review) or autosomal dominant (Most Commons in Medicine).
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| robin082006
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Pseudo hypoparathyroidism is genetic heterogeneity (AR, AD, XR).
So base on the age and sex of patient we select the answer.
this patient is female--> exclude XR
this patient is 27 yeal olds--> AD is more suitable than AR
Hope this help
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| Diego Casali
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Thank you very much for your explanation!
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| study_ing
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vow. thanx
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| docsrinu
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excellent robin.
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| icemaiden
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cool!
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| muzammil
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nice question and a great explanation
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| Lim
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robin082006, gre8.
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