オオツキ　ミチオ   Ootsuki Michio   大月　道夫    所属   医学部 医学科（東京女子医科大学病院）    職種   教授・基幹分野長
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1
掲載誌名	正式名：Journal of the Endocrine Society. 略　 称：J Endocr Soc ISSNコード：24721972
掲載区分	国外
巻・号・頁	4(5),pp.bvaa041
著者・共著者	Kobayashi, S. Tanigawa, J. Kondo, H. Nabatame, S. Maruoka, A. Sho, H. Tanikawa, K. Inui, R. Otsuki, M. Shimomura, I. Ozono, K. Hashimoto, K.
発行年月	2020
概要	Hartsfield syndrome (HS: OMIM 615465) is a rare congenital disease associated with a mutation of the fibroblast growth factor receptor 1 gene (FGFR1) with the main features of holoprosencephaly and ectrodactyly. Patients with HS also present with endocrinological deficits, such as isolated hypogonadotropic hypogonadism and central diabetes insipidus. Although there are several studies on infancy/childhood history, there is no study of infant/childhood/adolescent/young adult HS natural history and endocrinological findings. Here, we report a male patient with HS associated with a novel de novo FGFR1 mutation (c. 1868A>C). The endocrinological profile was evaluated at ages 1 and 31 years. This long-term follow-up study highlights functional changes in the posterior pituitary gland and features of bone metabolism disorder. We also describe the anterior pituitary function. To our knowledge this is the first description of the natural history of an HS patient through birth to young adult age. Although the HS infants reported in the literature develop central diabetes insipidus, little is known about the serial changes in pituitary gland function during growth in HS patients. In this study we describe an adult patient with HS who showed improvement of hypernatremia during early adulthood. In addition, we emphasize the importance of prevention and treatment of osteoporosis in HS.
DOI	10.1210/jendso/bvaa041
文献番号	32373773