10 一位6個月大的男孩由父母帶至門診求診，主訴自出生後即有異位性皮膚炎，易流鼻血，實驗室檢查發現血小板數目偏低，下列何者錯誤？

周邊血液抹片可見血小板變大

為性聯隱性遺傳（X-linked recessive）

病童常有皮膚、中耳或肺部之反覆感染

病人之體液型免疫反應（humoral immune response）有缺陷，常見IgM低下及IgA、IgE上升

A

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13 一位12歲女孩因身材矮小就診，父親身高160公分，母親身高152公分。去年曾發生一次全身性痙攣（generalized convulsion），身體檢查顯示身高133公分（低於第3百分位），體重47公斤（第90百分位），圓臉、輕微智障，實驗室檢查顯示血清鈣值1.53 nmol/L，血清磷值6.4 mg/dL，血清鎂1.1 mmol/L，血清副甲狀腺素（intact PTH）值245 pg/mL（正常值12-72 pg/mL），此女童最可能的診斷為：

hyperparathyroidism hypoparathyroidism

pseudohypoparathyroidism pseudopseudohypoparathyroidism

C

Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.^[1]Patients have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is actually appropriately high (due to the hypocalcemia). Its pathogenesis has been linked to dysfunctional G Proteins (in particular, Gs alpha subunit).

Pseudopseudohypoparathyroidism (pseudoPHP) is an inherited disorder, named for its similarity topseudohypoparathyroidism in presentation. The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.

It is sometimes considered a variant of Albright hereditary osteodystrophy

Condition	Appearance	PTH levels	Calcium	Imprinting
Hypoparathyroidism	Skeletal defects	low	low	not applicable
Pseudohypoparathyroidism 1A	Skeletal defects	normal	low	gene defect from mother
Pseudopseudohypoparathyroidism	Skeletal defects	normal	normal[4]	gene defect from father