22.内分泌・骨格系障害

　先天性角化不全症（DC）および関連するテロメア生物学的疾患（TBDs）の患者における内分泌系を評価する研究は、まだ少ないです。内分泌系の異常に関するほとんどの知識は、以下の報告に基づいています。イギリスのDokalらによって管理されているDC/TBDs登録からの報告[1]と、国立がん研究所（NCI）の前向きDC/TBDsコホート研究（調査時点で、仮説として考えられる要因を持つ集団（曝露群）と持たない集団（非曝露群）を追跡し、両群の疾病の罹患率または死亡率を比較する方法）による臨床観察に基づくものです。

　原発性甲状腺機能低下症、成長ホルモン欠乏症（GHD）、性腺機能低下症、糖尿病などの内分泌疾患は、DC/TBDの患者にはあまり見られません。内分泌疾患は、DC/TBDs患者には一般的ではありません。しかし、骨格に関する異常は、一般集団と比較して高い頻度で認められます。DC/TBDの患者さんでは、股関節や肩の血管壊死（AVN） [2, 3] 、骨密度の低下 [1] 、骨折のリスクの増加 [4] などの骨格の異常が報告されています。さらに、アンドロゲンや造血細胞移植(HCT)などのDC/TBDの血液学的症状を治療する治療法は、本章で述べるように、それ自体が内分泌異常を引き起こすことがあります(第10章テロメア生物学における骨髄不全の医学管理および第13章造血幹細胞移植も参照ください)。

～続きを執筆中です～

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