An association with hypopituitarism and 9q subtelomere deletion syndrome

被引：1

作者：

Higuchi, Shinji ^{[1
]}

Takagi, Masaki ^{[2
,3
]}

Takeda, Ryojun ^{[4
]}

Yoshihashi, Hiroshi ^{[4
]}

Narumi, Satoshi ^{[2
,5
]}

Hasegawa, Tomonobu ^{[2
]}

机构：

[1] Osaka City Gen Hosp, Dept Pediat Endocrinol & Metab, Childrens Med Ctr, Osaka, Japan

[2] Keio Univ, Dept Pediat, Sch Med, Tokyo, Japan

[3] Kojiya Child Clin, Tokyo, Japan

[4] Tokyo Metropolitan Childrens Med Ctr, Dept Med Genet, Tokyo, Japan

[5] Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

来源：

CLINICAL CASE REPORTS | 2018年 / 6卷 / 12期

基金：

日本学术振兴会;

关键词：

9q subtelomere deletion syndrome; array comparative genomic hybridization; central adrenal insufficiency; hypopituitarism; whole-exome sequence;

D O I：

10.1002/ccr3.1591

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：2371 / 2375

页数：5

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