イトウ　ナオコ   Itou Naoko   井藤　奈央子    所属   医学部 医学科（東京女子医科大学病院）    職種   助教
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Hypothalamic pituitary complications in Kabuki syndrome.
掲載誌名	正式名：Pituitary 略　 称：Pituitary ISSNコード：15737403/1386341X
掲載区分	国外
巻・号・頁	16(2),pp.133-8
著者・共著者	Ito Naoko, Ihara Kenji, Tsutsumi Yasushi, Miyake Noriko, Matsumoto Naomichi, Hara Toshiro
発行年月	2013/06
概要	Kabuki syndrome is characterized by distinctive facial features, multiple anomalies and mental retardation. In this syndrome, structural CNS abnormalities are commonly observed, but congenital abnormalities in the pituitary gland or hypothalamus have rarely been reported. We searched the published medical literature on the complications in hypothalamic pituitary axis in this syndrome. As a result, only nine patients with Kabuki syndrome had been reported to have complications in hypothalamic pituitary axis in previous papers. Among the nine reported patients and one presented case in this report, GH deficiency was the most frequent complication and found in six patients. Precocious puberty and central diabetes insipidus (DI) was identified in two cases, respectively, and ACTH deficiency was found in one. One case had combination of GH deficiency and central DI. Three of the 10 patients demonstrated abnormal pituitary findings in MRI study. Two of the six patients with GH deficiency were accompanied with premature thelarche. This review highlights that patients with Kabuki syndrome could present various clinical manifestations due to abnormalities in hypothalamic pituitary axis.
DOI	10.1007/s11102-012-0386-8
PMID	22434255