Different subtypes of pseudohypoparathyroidism in the same family with an unusual psychiatric presentation of the index case

同一家族中出现不同亚型的假性甲状旁腺功能减退症,且先证者表现出不寻常的精神症状

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Abstract

A 13 year old Asian girl presenting with apparent hysterical paralysis and subsequent rapid cycling bipolar mood disorder was found to have biochemical evidence of pseudohypoparathyroidism type II. The mood disorder responded to treatment of the pseudohypoparathyroidism with a vitamin D analogue. Investigation of her parents and siblings showed phenotypes consistent with two distinct types of pseudohypoparathyroidism (type I and type II) in different family members.

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