An association with hypopituitarism and 9q subtelomere deletion syndrome

与垂体功能减退症和9q亚端粒缺失综合征相关

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作者:Shinji Higuchi ,Masaki Takagi ,Ryojun Takeda ,Hiroshi Yoshihashi ,Satoshi Narumi ,Tomonobu Hasegawa

Abstract

Hypopituitarism could have been overlooked so far in the patients with 9q subtelomere deletion syndrome (9qSTDS); thus, further investigations or reevaluation of clinical information, especially hormonal evaluations, are warranted to determine whether hypopituitarism is a rare or relatively common presentation in patients with 9qSTDS. Keywords: 9q subtelomere deletion syndrome; array comparative genomic hybridization; central adrenal insufficiency; hypopituitarism; whole‐exome sequence.

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